RGD:38483914 Rat Genome Database

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Variant: RGD:38483914 -  Homo sapiens

RGD ID: 38483914
RS ID: rs373789508
ClinVar ID: CV927558
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC4  LOC105371093  LOC130058543  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 14,014,026
GRCh38 16 13,920,169
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_463t1:c.4G>C
NM_005236.3:c.4G>C
LRG_463:g.5013G>C
NG_011442.1:g.5013G>C
More... 		07/25/2019 missense variant uncertain significance Cockayne syndrome; Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Fanconi anemia complementation group Q; Progeria-like syndrome; Progeroid nanism; XERODERMA PIGMENTOSUM VI; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; Xeroderma pigmentosum, type 6; XERODERMA PIGMENTOSUM, TYPE F; XP, GROUP F
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERCC4
Accession:NM_005236
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEG
VEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLTDRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGF
IKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKEL
KCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRATEKAF
GQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEA
LGGPGQVLICASDDRTCSQLRDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERAST
KERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGC
SDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPGKPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASM
VVPEEREGRDETNLDLVRGTASADVSTDTRKAGGQEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTP
EMCVERKSISDLIGSLNNGRLYSQCISMSRYYKRPVLLIEFDPSKPFSLTSRGALFQEISSNDISSKLTLLTLHFPRLRI
LWCPSPHATAELFEELKQSKPQPDAATALAITADSETLPESEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALS
QDELTSILGNAANAKQLYDFIHTSFAEVVSKGKGKK*

Gene Symbol:ERCC4
Accession:XM_011522424
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEG
VEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLTDRIPSDLITEILPLTCQKHPTPGPVPSLSPQPGSLELSWP
RWSQGSIQPLFRYHLGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWP
RFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKELKCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLW
HQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKK
EKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQLRDYITLGAEAFLLR
LYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGY
RREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIY
RASRPGKPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGTASADVSTDTRKAGG
QEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTPEMCVERKSISDLIGSLNNGRLYSQCISMSRYYKR
PVLLIEFDPSKPFSLTSRGALFQEISSNDISSKLTLLTLHFPRLRILWCPSPHATAELFEELKQSKPQPDAATALAITAD
SETLPESEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDFIHTSFAEVVSKGKG
KK*

Gene Symbol:ERCC4
Accession:XM_011522427
Location:INTRON

Gene Symbol:ERCC4
Accession:XM_047433774
Location:INTRON

Gene Symbol:LOC105371093
Accession:XR_007064998
Location:INTRON;NON-CODING

Gene Symbol:LOC105371093
Accession:XR_007065000
Location:INTRON;NON-CODING

Gene Symbol:LOC105371093
Accession:XR_007064999
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001219171 CLINVAR
dbSNP (RS) rs373789508 CLINVAR
MedGen C0268140 CLINVAR
NCBI Gene ERCC4 CLINVAR
  LOC130058543 CLINVAR
OMIM 133520 CLINVAR
  278760 CLINVAR
  615272 CLINVAR
SNOMED CT 42530008 CLINVAR