RGD:8622237 Rat Genome Database

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Variant: RGD:8622237 -  Homo sapiens

RGD ID: 8622237
RS ID: rs61027685
ClinVar ID: CV77255
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT14  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,742,690
GRCh38 17 41,586,438
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.5458G>T
NC_000017.11:g.41586438C>A
NC_000017.10:g.39742690C>A
NM_000526.5:c.397G>T
More... 		04/27/2017 missense|missense variant pathogenic|not provided Epidermolysis bullosa simplex with mottled pigmentation (subtype); Epidermolysis bullosa simplex, Dowling-Meara type (subtype); Epidermolysis bullosa simplex, Weber-Cockayne type (subtype); none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KRT14
Accession:NM_000526
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSF
GSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKLRALEEANADLEVKIRDWYQRQRPAEIK
DYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATN
SELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKI
LLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN*
Variant Samples
Additional References at PubMed
PMID:8601736   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000056729 CLINVAR
  RCV001352828 CLINVAR
dbSNP (RS) rs61027685 CLINVAR
MedGen C0079298 CLINVAR
  CN517202 CLINVAR
NCBI Gene KRT14 CLINVAR
OMIM 148066 CLINVAR
SNOMED CT 67144006 CLINVAR