RGD:329356756 Rat Genome Database

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Variant: RGD:329356756 -  Homo sapiens

RGD ID: 329356756
ClinVar ID: CV2431130
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP12-3  LOC127894966  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,077,937
GRCh38 21 44,658,020
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272037.2:c.-123+32525C>T
NM_198697.2:c.41G>A
NG_033806.1:g.58559C>T
NP_941970.2:p.Cys14Tyr
More... 		01/26/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_001272037
Location:5UTRS;INTRON

Gene Symbol:KRTAP12-3
Accession:NM_198697
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHTSCSPACQPTYCIHSPCQASCYVPVSCQSSVCMPVSCTRIVCVAPSCQPSVCVPVSCRPIIYVTPSCQSSGCCQPPC
TTALCRPISCSTPSCC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004250485 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP12-3 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR