RGD:156224583 Rat Genome Database

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Variant: RGD:156224583 -  Homo sapiens

RGD ID: 156224583
ClinVar ID: CV2399445
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-12  LOC127894967  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 46,117,464
GRCh38 21 44,697,549
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.-184-6943C>G
NM_198699.1:c.348G>C
NM_144991.3:c.82+13884C>G
NG_033806.2:g.19023C>G
More... 		09/29/2022 intron variant uncertain significance AllHighlyPenetrant

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

Gene Symbol:KRTAP10-12
Accession:NM_198699
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVCSSDLSYGSRVCLPGSCDSCSDSWQVDDCPESCCEPPCCAPAPCLSLVCTPVSRVSSPCCRVTCEPSPCQSGCTSSC
TPSCCQQSSCQPACCTSSPCQQACCVPVCCKTVCCNPVCCMPVCCGPSSSCCQQSSCQPACCISSPCQQSCCVPVCCKPI
CCVPVCSGASSLCCQQSSCQPACCTTSCCRPSSSVSLLCRPVCRPARRVPVPSCCVPTSSCQPSCGRLASCGSLLCRPTC
SRLAC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004242718 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-12 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR