RGD:156206182 Rat Genome Database

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Variant: RGD:156206182 -  Homo sapiens

RGD ID: 156206182
ClinVar ID: CV2385290
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-2  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,971,076
GRCh38 21 44,551,193
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198693.4:c.266G>A
NM_144991.3:c.303+16592G>A
NM_001272037.2:c.99+16592G>A
NG_033806.2:g.165379G>A
More... 		03/29/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-2
Accession:NM_198693
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSICSSACTNSWQVDDCPESCCELPCGTPSCCAPAPCLTLVCTPVSCVSSPCCQAACEPSACQSGCTSSCTPSCC
QQSSCQPAFCTSSPCQQACCVPVCCKPVCCVPVCCGASSCCQQSSCQPACCASSSCQQSCRVPVCCKAVCCVPTCSESSS
SCCQQSSCQPACCTSSPCQQSCCVSVCCKPVCCKSICCVPVCSGASSPCCQQSSCQPACCTSSCCRPSSSVSLLCRPVCS
RPASCSFSSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Gene Symbol:TSPEAR
Accession:NM_001272037
Location:INTRON

Gene Symbol:KRTAP10-2
Accession:NR_130165
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004230575 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-2 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR