RGD:8600266 Rat Genome Database

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Variant: RGD:8600266 -  Homo sapiens

RGD ID: 8600266
RS ID: rs121913049
ClinVar ID: CV31619
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 14,041,848
GRCh38 16 13,947,991
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_463t1:c.2395C>T
LRG_463:g.32835C>T
NG_011442.1:g.32835C>T
NC_000016.10:g.13947991C>T
More... 		02/22/2022 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided childhood 1-9 / 100 000 AllHighlyPenetrant; Carcinoma of breast; Cockayne syndrome; Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Exocrine pancreatic carcinoma; Fanconi anemia complementation group Q; none provided; PANCREATIC ACINAR CARCINOMA; Pancreatic cancer, somatic; PANCREATIC CARCINOMA; Pancreatic carcinoma, somatic; Progeria-like syndrome; Progerin-producing progeroid laminopathy; Progeroid nanism; Xeroderma pigmentosa; XERODERMA PIGMENTOSUM VI; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; Xeroderma pigmentosum, type 6; XERODERMA PIGMENTOSUM, TYPE F; XFE progeroid syndrome; XP, GROUP F
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ERCC4
Accession:XM_011522427
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESCPEEIK
HEEFDVNLSSDAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPGKPLRVYFLIY
GGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGTASADVSTDTRKAGGQEQNGTQQSIVVDMRE
FRSELPSLIHRRGIDIEPVTLEVGDYILTPEMCVERKSISDLIGSLNNGRLYSQCISMSRYYKRPVLLIEFDPSKPFSLT
SRGALFQEISSNDISSKLTLLTLHFPRLWILWCPSPHATAELFEELKQSKPQPDAATALAITADSETLPESEKYNPGPQD
FLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDFIHTSFAEVVSKGKGKK*

Gene Symbol:ERCC4
Accession:NM_005236
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 799
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEG
VEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLTDRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGF
IKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKEL
KCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRATEKAF
GQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEA
LGGPGQVLICASDDRTCSQLRDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERAST
KERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGC
SDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPGKPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASM
VVPEEREGRDETNLDLVRGTASADVSTDTRKAGGQEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTP
EMCVERKSISDLIGSLNNGRLYSQCISMSRYYKRPVLLIEFDPSKPFSLTSRGALFQEISSNDISSKLTLLTLHFPRLWI
LWCPSPHATAELFEELKQSKPQPDAATALAITADSETLPESEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALS
QDELTSILGNAANAKQLYDFIHTSFAEVVSKGKGKK*

Gene Symbol:ERCC4
Accession:XM_047433774
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 536
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARV
YHLPDAKMSKKEKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQLRDY
ITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEE
LEEEGDVEEGYRREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDA
ELTFVRQLEIYRASRPGKPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGTASA
DVSTDTRKAGGQEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTPEMCVERKSISDLIGSLNNGRLYS
QCISMSRYYKRPVLLIEFDPSKPFSLTSRGALFQEISSNDISSKLTLLTLHFPRLWILWCPSPHATAELFEELKQSKPQP
DAATALAITADSETLPESEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDFIHT
SFAEVVSKGKGKK*

Gene Symbol:ERCC4
Accession:XM_011522424
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 845
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEG
VEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLTDRIPSDLITEILPLTCQKHPTPGPVPSLSPQPGSLELSWP
RWSQGSIQPLFRYHLGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWP
RFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKELKCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLW
HQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKK
EKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQLRDYITLGAEAFLLR
LYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGY
RREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIY
RASRPGKPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGTASADVSTDTRKAGG
QEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTPEMCVERKSISDLIGSLNNGRLYSQCISMSRYYKR
PVLLIEFDPSKPFSLTSRGALFQEISSNDISSKLTLLTLHFPRLWILWCPSPHATAELFEELKQSKPQPDAATALAITAD
SETLPESEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDFIHTSFAEVVSKGKG
KK*
Variant Samples
Additional References at PubMed
PMID:8797827   PMID:9579555   PMID:20221251   PMID:21228398   PMID:21612988   PMID:23623389   PMID:24033266   PMID:24728327   PMID:25741868   PMID:26074087   PMID:27356891   PMID:27528516  
PMID:28431612   PMID:28492532   PMID:28678401   PMID:28767289   PMID:29105242   PMID:29403087   PMID:29892709   PMID:31692161  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018048 CLINVAR
  RCV000120808 CLINVAR
  RCV000415873 CLINVAR
  RCV000467658 CLINVAR
  RCV000766208 CLINVAR
  RCV000768209 CLINVAR
  RCV001034542 CLINVAR
  RCV001262417 CLINVAR
  RCV001391196 CLINVAR
  RCV001787804 CLINVAR
  RCV002257360 CLINVAR
  RCV003924841 CLINVAR
dbSNP (RS) rs121913049 CLINVAR
MedGen C0033300 CLINVAR
  C0043346 CLINVAR
  C0235974 CLINVAR
  C0268140 CLINVAR
  C0678222 CLINVAR
  C1970416 CLINVAR
  C3661900 CLINVAR
  C3808988 CLINVAR
  CN169374 CLINVAR
NCBI Gene ERCC4 CLINVAR
OMIM 133520 CLINVAR
  176670 CLINVAR
  260350 CLINVAR
  278760 CLINVAR
  610965 CLINVAR
  615272 CLINVAR
OMIM Allele 133520.0002 CLINVAR
  133520.0011 CLINVAR
SNOMED CT 238870004 CLINVAR
  254838004 CLINVAR
  372142002 CLINVAR
  42530008 CLINVAR
  44600005 CLINVAR