RFC1 | Belgian Genetic Tests database

Analyte Export to PDF
Name:	replication factor C subunit 1
Symbol:	RFC1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	A1 MHCBFB PO-GA RFC140
XREF(s):	Orphanet HGNC Ensembl SwissProt Reactome OMIM
Created:	04 Feb 2020 - 15:15
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

Related Diseases

Related Gene Panels

Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AMPD2	99.99	1
AP4B1	99.97	1
ATP13A2	99.98	1
CAMTA1	99.97	1
COA7	100.00	1
COQ8A	100.00	1
COX20	99.40	1
DARS2	99.86	1
EIF2B3	99.95	1
FLVCR1	99.93	1
GDAP2	99.96	1
GJC2	96.12	1
HPDL	100.00	1
IBA57	96.45	1
KCNA2	100.00	1
KCND3	100.00	1
MMACHC	99.99	1
MSTO1	98.87	1
PUM1	99.95	1
RNF220	99.95	1
SLC9A1	99.86	1
TMEM240	99.83	1
TOE1	99.99	1
VPS13D	99.85	1
ALDH18A1	99.96	1
CWF19L1	99.89	1
ENTPD1	99.90	1
ERLIN1	99.96	1
NKX6-2	96.38	1
NT5C2	99.89	1
PHYH	99.65	1
POLR3A	99.95	1
ATM	99.83	1
BSCL2	100.00	1
CAPN1	100.00	1
CLP1	100.00	1
FAR1	99.83	1
HIKESHI	99.89	1
MRE11	99.90	1
SCYL1	99.64	1
SPTBN2	99.99	1
TPP1	99.88	1
AAAS	99.98	1
B4GALNT1	99.95	1
EIF2B1	99.96	1
KCNA1	99.96	1
KIF5A	99.93	1
MTRFR	99.85	1
PRICKLE1	99.97	1
SCN8A	99.90	1
VAMP1	99.70	1
ATP7B	99.99	1
ATP8A2	99.96	1
EXOSC8	99.69	1
FGF14	99.79	1
KPNA3	99.96	1
SACS	99.98	1
SPART	99.99	1
AP4S1	87.70	1
ATL1	99.95	1
DDHD1	99.98	1
EIF2B2	99.84	1
GALC	99.88	1
GCH1	99.74	1
GLRX5	98.29	1
IRF2BPL	98.65	1
NPC2	99.99	1
TMEM63C	99.99	1
VRK1	99.94	1
ZFYVE26	99.96	1
AP4E1	99.89	1
CLN6	98.04	1
HEXA	99.98	1
NIPA1	96.26	1
POLG	99.98	1
SPG11	99.94	1
SPG21	99.99	1
TTBK2	99.88	1
WDR73	99.99	1
ARL6IP1	99.84	1
CHMP1A	100.00	1
FA2H	99.93	1
SPG7	99.99	1
STUB1	99.73	1
CACNA1G	99.89	1
COASY	99.98	1
GFAP	99.94	1
GOSR2	99.75	1
KIF1C	99.99	1
NPTX1	99.35	1
PCYT2	97.60	1
TSEN54	98.24	1
VPS53	99.98	1
WDR45B	99.96	1
WDR81	100.00	1
AFG3L2	99.82	1
NPC1	99.84	1
ATCAY	99.99	1
ATP1A3	99.99	1
C19ORF12	99.36	1
CACNA1A	99.66	1
CPT1C	99.99	1
DNMT1	99.88	1
EEF2	99.99	1
KCNC3	94.29	1
MAG	99.81	1
OPA3	100.00	1
PNKP	100.00	1
PNPLA6	99.88	1
PRKCG	99.90	1
RTN2	99.99	1
TUBB4A	98.81	1
ALS2	99.91	1
ATP5MC3	100.00	1
CYP27A1	99.96	1
DARS1	99.87	1
EIF2B4	99.94	1
HSPD1	99.95	1
KIDINS220	99.97	1
KIF1A	99.96	1
MARS2	100.00	1
PGAP1	99.64	1
REEP1	99.99	1
SELENOI	99.88	1
SLC1A4	99.95	1
SPAST	99.83	1
ABHD12	99.11	1
DNAJC5	99.99	1
PDYN	99.98	1
TGM6	100.00	1
ARSA	100.00	1
PLA2G6	99.98	1
ANO10	99.92	1
ATG7	99.98	1
BTD	99.99	1
CACNA2D2	99.32	1
CLCN2	99.97	1
CTNNB1	99.98	1
EIF2B5	99.95	1
ITPR1	99.94	1
OPA1	99.87	1
RUBCN	99.94	1
SLC33A1	99.82	1
TFG	99.34	1
TSEN2	86.92	1
AIMP1	99.90	1
CYP2U1	97.44	1
EXOSC9	99.86	1
GRID2	99.98	1
MTTP	99.96	1
RFC1	99.44	1
SEPSECS	99.84	1
UCHL1	99.99	1
CCT5	99.97	1
FAT2	99.94	1
HEXB	99.91	1
PCDH12	100.00	1
REEP2	100.00	1
SIL1	99.99	1
SLC1A3	99.90	1
SLC25A46	99.93	1
SQSTM1	100.00	1
THG1L	99.95	1
ABHD16A	100.00	1
ARG1	99.98	1
ELOVL4	99.92	1
ELOVL5	99.95	1
FARS2	99.98	1
GRM1	99.87	1
HACE1	99.91	1
PEX7	99.87	1
RARS2	97.34	1
SNX14	99.73	1
SYNE1	99.96	1
TDP2	99.85	1
AP4M1	100.00	1
AP5Z1	99.94	1
COG5	99.92	1
IFRD1	99.96	1
PMPCB	99.98	1
RNF216	99.99	1
SAMD9L	99.98	1
VPS41	99.95	1
CA8	99.97	1
CYP7B1	99.87	1
DDHD2	99.74	1
ERLIN2	99.94	1
GPAA1	99.88	1
RNF170	99.94	1
TTPA	99.97	1
WASHC5	99.90	1
APTX	99.92	1
AUH	99.95	1
EXOSC3	99.98	1
GBA2	99.97	1
INPP5E	99.75	1
PMPCA	99.99	1
SETX	99.96	1
SPTAN1	99.97	1
UBAP1	99.96	1
VLDLR	99.93	1
ABCB7	98.62	1
ABCD1	99.78	1
AIFM1	99.43	1
AP1S2	97.43	1
ATP2B3	99.82	1
CASK	99.40	1
L1CAM	99.90	1
PLP1	99.93	1

Neuropathy (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS1	99.94	1
ABCA1	99.92	1
ABHD12	99.11	1
ADPRS	100.00	1
AGTPBP1	99.40	1
AIFM1	99.43	1
ARHGEF10	100.00	1
ARSA	100.00	1
ATL1	99.95	1
ATL3	99.86	1
ATM	99.83	1
ATP1A1	99.94	1
ATP7A	99.35	1
B4GALNT1	99.95	1
BAG3	100.00	1
BICD2	100.00	1
BSCL2	100.00	1
CADM3	99.94	1
CD59	99.97	1
CFAP276	99.73	1
CHCHD10	97.06	1
CLTCL1	99.98	1
CNTNAP1	99.80	1
COA7	100.00	1
COX20	99.40	1
COX6A1	99.99	1
CTDP1	98.02	1
CTNNB1	99.98	1
CYP27A1	99.96	1
DARS2	99.86	1
DCAF8	99.98	1
DCTN1	99.95	1
DGAT2	99.99	1
DGUOK	99.76	1
DHTKD1	99.88	1
DNAJB2	100.00	1
DNAJC3	99.58	1
DNM2	99.96	1
DNMT1	99.88	1
DRP2	99.45	1
DST	99.92	1
DYNC1H1	99.97	1
EGR2	100.00	1
ELP1	99.96	1
ETFDH	99.76	1
FBLN5	92.79	1
FBXO38	99.93	1
FGD4	99.89	1
FIG4	99.94	1
FLVCR1	99.93	1
FXN	97.92	1
GALC	99.88	1
GAN	99.84	1
GARS1	99.86	1
GBA2	99.97	1
GBE1	99.84	1
GBF1	99.95	1
GDAP1	99.93	1
GJB1	99.99	1
GJB3	100.00	1
GJC2	96.12	1
GLA	99.64	1
GNB4	99.95	1
GSN	97.83	1
HADHA	99.96	1
HADHB	99.97	1
HARS1	99.99	1
HINT1	99.96	1
HK1	96.86	1
HNRNPA1	100.00	1
HOXD10	100.00	1
HSPB1	99.83	1
HSPB3	100.00	1
HSPB8	99.90	1
IARS2	99.96	1
IFRD1	99.96	1
IGHMBP2	99.99	1
INF2	97.15	1
ITPR3	99.88	1
JAG1	99.92	1
KIF1A	99.96	1
KIF5A	99.93	1
LITAF	100.00	1
LMNA	99.98	1
LRSAM1	99.97	1
LYST	99.92	1
MCM3AP	99.96	1
MFN2	99.96	1
MMACHC	99.99	1
MME	97.69	1
MORC2	99.98	1
MPV17	100.00	1
MPZ	99.97	1
MTMR2	99.98	1
MTRFR	99.85	1
MYH14	99.79	1
NAGA	99.99	1
NAGLU	98.00	1
NARS1	99.74	1
NDRG1	100.00	1
NEFH	98.77	1
NEFL	99.99	1
NGF	99.99	1
NTRK1	99.67	1
PCYT2	97.60	1
PDK3	98.86	1
PEX7	99.87	1
PHYH	99.65	1
PIEZO2	99.88	1
PLD3	99.99	1
PLEKHG5	99.66	1
PLP1	99.93	1
PMM2	99.94	1
PMP2	99.95	1
PMP22	100.00	1
PNKP	100.00	1
PNPLA6	99.88	1
POLG	99.98	1
POLR3B	99.88	1
PPOX	99.94	1
PRDM12	99.60	1
PRKCG	99.90	1
PRNP	100.00	1
PRPS1	99.79	1
PRX	99.94	1
PTEN	99.15	1
PTPN11	99.91	1
PTRH2	99.97	1
RAB7A	99.94	1
REEP1	99.99	1
RETREG1	99.92	1
RFC1	99.44	1
SACS	99.98	1
SBF1	99.97	1
SBF2	99.92	1
SCARB2	99.94	1
SCN10A	99.97	1
SCN11A	99.77	1
SCN9A	99.96	1
SCO2	100.00	1
SCYL1	99.64	1
SEPTIN9	99.94	1
SETX	99.96	1
SH3TC2	99.98	1
SIGMAR1	99.99	1
SLC12A6	99.88	1
SLC25A19	99.99	1
SLC25A46	99.93	1
SLC52A2	100.00	1
SLC52A3	100.00	1
SLC5A7	99.97	1
SORD	92.86	1
SOX10	100.00	1
SPAST	99.83	1
SPG11	99.94	1
SPG7	99.99	1
SPTAN1	99.97	1
SPTBN4	99.19	1
SPTLC1	99.98	1
SPTLC2	99.94	1
SPTLC3	99.94	1
SURF1	97.64	1
SYT2	99.89	1
TBCE	99.69	1
TBCK	99.76	1
TECPR2	99.90	1
TFG	99.34	1
TRIM2	99.99	1
TRPV4	99.96	1
TTPA	99.97	1
TTR	100.00	1
TUBB3	100.00	1
TWNK	100.00	1
UCHL1	99.99	1
VAPB	99.94	1
VCP	99.92	1
VPS13A	99.60	1
VRK1	99.94	1
VWA1	91.35	1
WARS1	99.79	1
WNK1	99.94	1
XRCC1	99.94	1
YARS1	99.96	1
ZFHX2	99.98	1
ZFYVE26	99.96	1