RGD:401882688 Rat Genome Database

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Variant: RGD:401882688 -  Homo sapiens

RGD ID: 401882688
ClinVar ID: CV2774819
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP12-2  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,086,665
GRCh38 21 44,666,748
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+23797C>T
NM_181684.3:c.139C>T
NM_144991.3:c.82+44685C>T
NG_033806.2:g.49824C>T
More... 		07/12/2023 intron variant uncertain significance AllHighlyPenetrant

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

Gene Symbol:KRTAP12-2
Accession:NM_181684
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHTSCSSGCQPACCAPSPCQPACCVPSSCQASCCVPVGCQSSVCVTVSFKPAVCLPVSCQSSVCVPMSFKSAVCVPVSC
QSSVCVPVSCRPIVCAAPSCQSSLCVPVSCRPVVYAAPSCQSSGCCQPSCTSVLCRPISYSISSCC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004343909 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP12-2 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR