RGD:8622466 Rat Genome Database

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Variant: RGD:8622466 -  Homo sapiens

RGD ID: 8622466
RS ID: rs59685571
ClinVar ID: CV77486
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT6A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 52,886,460
GRCh38 12 52,492,676
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008298.1:g.5722C>A
NC_000012.12:g.52492676G>T
NC_000012.11:g.52886460G>T
P02538:p.Asn171Lys
More... 		03/02/2016 missense|missense variant pathogenic|not provided all ages|variable none provided; PC-K6a
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KRT6A
Accession:NM_005554
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSVSVSRSRGSGGLGGACGGAGFGSRSLYGLGGSKRISIGGGSCAIS
GGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPTIQRVR
AEEREQIKTLKNKFASFIDKVRFLEQQNKVLETKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELR
GMQDLVEDFKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRALYDAELSQMQTHISDTSVVL
SMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKK
QCANLQAAIADAEQRGEMALKDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEG
VGQVNISVVQSTVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRAIGGGLSSVGGGSSTIKYTTTSSSSRK
SYKH*
Variant Samples
Additional References at PubMed
PMID:16250206   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000057011 CLINVAR
  RCV000128821 CLINVAR
dbSNP (RS) rs59685571 CLINVAR
MedGen C3661900 CLINVAR
  C3714948 CLINVAR
NCBI Gene KRT6A CLINVAR
OMIM 148041 CLINVAR
  615726 CLINVAR
OMIM Allele 148041.0007 CLINVAR