RGD:34888364 Rat Genome Database

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Variant: RGD:34888364 -  Homo sapiens

RGD ID: 34888364
RS ID: rs1907424216
ClinVar ID: CV917238
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT14  LOC127886842  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 39,740,032
GRCh38 17 41,583,780
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000526.4:c.907G>A
NP_000517.3:p.Glu303Lys
NM_000526.5:c.907G>A
NC_000017.11:g.41583780C>T
More... 		12/03/2019 missense variant uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:KRT14
Accession:NM_000526
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 303
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSF
GSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIK
DYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAKEWFFTKTEELNREVATN
SELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKI
LLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001194424 CLINVAR
  RCV002559229 CLINVAR
dbSNP (RS) rs1907424216 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KRT14 CLINVAR
OMIM 148066 CLINVAR