RGD:8622223 Rat Genome Database

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Variant: RGD:8622223 -  Homo sapiens

RGD ID: 8622223
RS ID: rs59110575
ClinVar ID: CV77241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT14  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,742,723
GRCh38 17 41,586,471
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.5425C>T
NC_000017.11:g.41586471G>A
NC_000017.10:g.39742723G>A
NM_000526.5:c.364C>T
More... 		10/29/2021 missense|missense variant pathogenic|not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:KRT14
Accession:NM_000526
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSF
GSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNFNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIK
DYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATN
SELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKI
LLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN*
Variant Samples
Additional References at PubMed
PMID:7526926   PMID:28492532   PMID:32484238  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000056712 CLINVAR
dbSNP (RS) rs59110575 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KRT14 CLINVAR
OMIM 148066 CLINVAR