RGD:11611209 Rat Genome Database

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Variant: RGD:11611209 -  Homo sapiens

RGD ID: 11611209
RS ID: rs565056780
ClinVar ID: CV306872
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HGF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 81,334,812
GRCh38 7 81,705,496
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016274.2:g.69641A>G
NC_000007.14:g.81705496T>C
NC_000007.13:g.81334812T>C
NM_000601.4:c.1904A>G
More... 		06/14/2016 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
Hearing Loss  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:HGF
Accession:NM_001010932
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 630
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVTKLLPALLLQHVLLHLLLLPIAIPYAEGQRKRRNTIHEFKKSAKTTLIKIDPALKIKTKKVNTADQCANRCTRNKGL
PFTCKAFVFDKARKQCLWFPFNSMSSGVKKEFGHEFDLYENKDYIRNCIIGKGRSYKGTVSITKSGIKCQPWSSMIPHEH
SYRGKDLQENYCRNPRGEEGGPWCFTSNPEVRYEVCDIPQCSEVECMTCNGESYRGLMDHTESGKICQRWDHQTPHRHKF
LPERYPDKGFDDNYCRNPDGQPRPWCYTLDPHTRWEYCAIKTCADNTMNDTDVPLETTECIQGQGEGYRGTVNTIWNGIP
CQRWDSQYPHEHDMTPENFKCKDLRENYCRNPDGSESPWCFTTDPNIRVGYCSQIPNCDMSHGQDCYRGNGKNYMGNLSQ
TRSGLTCSMWDKNMEDLHRHIFWEPDASKLNENYCRNPDDDAHGPWCYTGNPLIPWDYCPISRCEGDTTPTIVNLDHPVI
SCAKTKQLRVVNGIPTRTNIGWMVSLRYRNKHICGGSLIKESWVLTARQCFPSRDLKDYEAWLGIHDVHGRGDEKCKQVL
NVSQLVYGPEGSDLVLMKLARPAVLDDFVSTIDLPNYGCTIPEKTSCSVYGWGYTGLINYDGLLRVAHLCIMGNEKCSQH
HRGKVTLNESEICAGAEKIGSGPCEGDYGGPLVCEQHKMRMVLGVIVPGRGCAIPNRPGIFVRVAYYAKWIHKIILTYKV
PQS*

Gene Symbol:HGF
Accession:NM_000601
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 635
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVTKLLPALLLQHVLLHLLLLPIAIPYAEGQRKRRNTIHEFKKSAKTTLIKIDPALKIKTKKVNTADQCANRCTRNKGL
PFTCKAFVFDKARKQCLWFPFNSMSSGVKKEFGHEFDLYENKDYIRNCIIGKGRSYKGTVSITKSGIKCQPWSSMIPHEH
SFLPSSYRGKDLQENYCRNPRGEEGGPWCFTSNPEVRYEVCDIPQCSEVECMTCNGESYRGLMDHTESGKICQRWDHQTP
HRHKFLPERYPDKGFDDNYCRNPDGQPRPWCYTLDPHTRWEYCAIKTCADNTMNDTDVPLETTECIQGQGEGYRGTVNTI
WNGIPCQRWDSQYPHEHDMTPENFKCKDLRENYCRNPDGSESPWCFTTDPNIRVGYCSQIPNCDMSHGQDCYRGNGKNYM
GNLSQTRSGLTCSMWDKNMEDLHRHIFWEPDASKLNENYCRNPDDDAHGPWCYTGNPLIPWDYCPISRCEGDTTPTIVNL
DHPVISCAKTKQLRVVNGIPTRTNIGWMVSLRYRNKHICGGSLIKESWVLTARQCFPSRDLKDYEAWLGIHDVHGRGDEK
CKQVLNVSQLVYGPEGSDLVLMKLARPAVLDDFVSTIDLPNYGCTIPEKTSCSVYGWGYTGLINYDGLLRVAHLCIMGNE
KCSQHHRGKVTLNESEICAGAEKIGSGPCEGDYGGPLVCEQHKMRMVLGVIVPGRGCAIPNRPGIFVRVAYYAKWIHKII
LTYKVPQS*

Gene Symbol:HGF
Accession:XM_047420293
Location:INTRON

Gene Symbol:HGF
Accession:NM_001010933
Location:INTRON

Gene Symbol:HGF
Accession:NM_001010931
Location:INTRON

Gene Symbol:HGF
Accession:NM_001010934
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000391658 CLINVAR
dbSNP (RS) rs565056780 CLINVAR
MedGen CN239440 CLINVAR
NCBI Gene HGF CLINVAR
OMIM 142409 CLINVAR