RGD:155985423 Rat Genome Database

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Variant: RGD:155985423 -  Homo sapiens

RGD ID: 155985423
ClinVar ID: CV1979567
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXA13  LOC107126288  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 27,239,427
GRCh38 7 27,199,808
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000513.2:p.Leu90=
LRG_1349p1:p.Leu90=
NG_046623.1:g.1466C>T
LRG_1349t1:c.270G>A
More... 		07/06/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HOXA13
Accession:NM_000522
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTASVLLHPRWIEPTVMFLYDNGGGLVADELNKNMEGAAAAAAAAAAAAAAGAGGGGFPHPAAAAAGGNFSVAAAAAAAA
AAAANQCRNLMAHPAPLAPGAASAYSSAPGEAPPSAAAAAAAAAAAAAAAAAASSSGGPGPAGPAGAEAAKQCSPCSAAA
QSSSGPAALPYGYFGSGYYPCARMGPHPNAIKSCAQPASAAAAAAFADKYMDTAGPAAEEFSSRAKEFAFYHQGYAAGPY
HHHQPMPGYLDMPVVPGLGGPGESRHEPLGLPMESYQPWALPNGWNGQMYCPKEQAQPPHLWKSTLPDVVSHPSDASSYR
RGRKKRVPYTKVQLKELEREYATNKFITKDKRRRISATTNLSERQVTIWFQNRRVKEKKVINKLKTTS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002617785 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HOXA13 CLINVAR
  LOC107126288 CLINVAR
OMIM 142959 CLINVAR