RGD:329359436 Rat Genome Database

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Variant: RGD:329359436 -  Homo sapiens

RGD ID: 329359436
ClinVar ID: CV2446262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-5  LOC127894948  TSPEAR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 45,999,938
GRCh38 21 44,580,061
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033806.1:g.136518A>G
NG_144580.1:g.414T>C
NC_000021.9:g.44580061T>C
NC_000021.8:g.45999938T>C
More... 		02/01/2023 intron variant likely benign AllHighlyPenetrant

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

Gene Symbol:KRTAP10-5
Accession:NM_198694
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAACTMSVCSSACSDSWRVDDCPESCCEPPCGTAPCLTLVCTPVSCVSSPCCQAACEPSPCQSGCTSSCTPSCCQPACCA
SSPCQQACCVPVCCKPVCCLPTCSKDSSSCCQQSSCQPTCCASSSCQQSCCVPVCCKPVCCVPTCSEDSSSCCQHSSCQP
TCCTSSPCQQSCSVPVCCKPVCCKPICCVPVCSGASTSCCQQSSCQPACCTTSCCRPSSSVSLLCRPICRPACCLPISSC
CAPASSYQASCCRPASCVSLLCRPACSPLAC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004249401 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-5 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR