RGD:156297728 Rat Genome Database

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Variant: RGD:156297728 -  Homo sapiens

RGD ID: 156297728
ClinVar ID: CV2297709
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-9  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,047,321
GRCh38 21 44,627,404
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198690.2:c.233C>T
NP_941963.2:p.Ser78Leu
NM_001272037.2:c.-122-59399G>A
NM_198690.3:c.233C>T
More... 		08/11/2022 intron variant uncertain significance AllHighlyPenetrant

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

Gene Symbol:KRTAP10-9
Accession:NM_198690
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSIRSSAYSDSWQVDDCPESCCEPPCCATSCCAPAPCLTLVCTPVSRVSSPCCQVTCEPSPCQSGCTSSCTPLCC
QQSSCQPAYCTSSPCQQACCVPVCCKPVCCVPVCCGASSCCQQSSYQPACCASSSCQPACCVPVCCKPVCCAPTCSEDSY
SCCQQSSCQPACCTSSPCQQSYCVPVCCKPVCCKPICCVPVCSGASSLCCQQSGCQPACCTTSCCRPSSSVSLLCRPVCR
PACCVPVSSCCAPTSSRQPSYCRQASCVSLLCRPVCSRPACYSFSSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004155389 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-9 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR