RGD:401740708 Rat Genome Database

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Variant: RGD:401740708 -  Homo sapiens

RGD ID: 401740708
ClinVar ID: CV2679786
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-7  LOC127894955  TSPEAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,020,678
GRCh38 21 44,600,763
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.-122-32758C>T
NM_198689.3:c.142G>A
NM_144991.3:c.83-32758C>T
NG_033806.2:g.115809C>T
More... 		05/23/2023 intron variant likely benign AllHighlyPenetrant

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

Gene Symbol:KRTAP10-7
Accession:NM_198689
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSDLSYGSRVCLPGSCDSCSDSWQVDDCPESCCEPPCCTPAPCLSLVCTPVSYVSSPCCRVTCEPSPCQSG
CTSSCTPSCCQQSSCQLACCASSPCQQACCVPVCCKTVCCKPVYCVPVCSGDSSCCQQSSCQSACCTSSPCQQACCVPIC
CKPVCSGISSSCCQQSSCVSCVSSPCCQAVCEPSPCQSGCISSCTPSCCQQSSCKPACCTSSPCQQACCVPVCCKPVCCV
PTCSDDSGSCCQPACCTSSQSQQGCCVPVCCKPVCCVPVCSGASTSCCQQSSCQPACCTTSCCRPSSSVSLLCRPVCRPA
CCVPVPSCCAPTSSCQASCCRPASCVSLLCRPACSRPACCGPTSTQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004282249 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-7 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR