RGD:156124574 Rat Genome Database

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Variant: RGD:156124574 -  Homo sapiens

RGD ID: 156124574
ClinVar ID: CV2350113
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 46,078,032
GRCh38 21 44,658,115
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+32430C>T
NM_198697.2:c.136G>A
NM_144991.3:c.82+53318C>T
NG_033806.2:g.58457C>T
More... 		11/22/2021 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: V to M (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHTSCSPACQPTCCIHSPCQASCYVPVSCQSSVCMPVSCTRIVCMAPSCQPSVCVPVSCRPIIYVTPSCQSSGCCQPPC
TTALCRPISCSTPSCC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004200035 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP12-3 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR