RGD:155936221 Rat Genome Database

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Variant: RGD:155936221 -  Homo sapiens

RGD ID: 155936221
ClinVar ID: CV2379786
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT35  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,633,831
GRCh38 17 41,477,579
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002280.6:c.1159C>T
NG_012292.1:g.8562C>T
NC_000017.11:g.41477579G>A
NC_000017.10:g.39633831G>A
More... 		02/04/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KRT35
Accession:NM_002280
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 387
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKCLKAGFSSGSLKSPGGASGGSTRVSAMYSSSSCKLPSLSPVARSFSACSVGLGRSSYRATSCLPALCLPAGGFATS
YSGGGGWFGEGILTGNEKETMQSLNDRLAGYLEKVRQLEQENASLESRIREWCEQQVPYMCPDYQSYFRTIEELQKKTLC
SKAENARLVVEIDNAKLAADDFRTKYETEVSLRQLVESDINGLRRILDDLTLCKSDLEAQVESLKEELLCLKKNHEEEVN
SLRCQLGDRLNVEVDAAPPVDLNRVLEEMRCQYETLVENNRRDAEDWLDTQSEELNQQVVSSSEQLQSCQAEIIELRRTV
NALEIELQAQHSMRDALESTLAETEARYSSQLAQMQCMITNVEAQLAEIRADLERQNQEYQVLLDVWARLECEINTYRGL
LESEDSKLPCNPCAPDYSPSKSCLPCLPAASCGPSAARTNCSPRPICVPCPGGRF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002684916 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene KRT35 CLINVAR
OMIM 602764 CLINVAR