RGD:12895681 Rat Genome Database

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Variant: RGD:12895681 -  Homo sapiens

RGD ID: 12895681
RS ID: rs58645163
ClinVar ID: CV409921
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT14  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 39,739,598
GRCh38 17 41,583,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008624.1:g.8550G>A
NC_000017.11:g.41583346C>T
NC_000017.10:g.39739598C>T
NM_000526.5:c.1163G>A
More... 		06/03/2022 missense variant pathogenic|likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:KRT14
Accession:NM_000526
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSF
GSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIK
DYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATN
SELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLHCEMEQQNQEYKI
LLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN*
Variant Samples
Additional References at PubMed
PMID:12707098   PMID:22832485   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000487370 CLINVAR
dbSNP (RS) rs58645163 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KRT14 CLINVAR
OMIM 148066 CLINVAR