RGD:11087605 Rat Genome Database

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Variant: RGD:11087605 -  Homo sapiens

RGD ID: 11087605
RS ID: rs878854400
ClinVar ID: CV227486
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXD13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 176,958,360
GRCh38 2 176,093,632
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008137.1:g.5829C>T
NC_000002.12:g.176093632C>T
NC_000002.11:g.176958360C>T
NP_000514.2:p.Gln248Ter
More... 		08/12/2016 nonsense pathogenic infancy|neonatal
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HOXD13
Accession:NM_000523
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRAGSWDMDGLRADGGGAGGAPASSSSSSVAAAAASGQCRGFLSAPVFAGTHSGRAAAAAAAAAAAAAAASGFAYPGTS
ERTGSSSSSSSSAVVAARPEAPPAKECPAPTPAAAAAAPPSAPALGYGYHFGNGYYSCRMSHGVGLQQNALKSSPHASLG
GFPVEKYMDVSGLASSSVPANEVPARAKEVSFYQGYTSPYQHVPGYIDMVSTFGSGEPRHEAYISMEGYQSWTLANGWNS
QVYCTKD*PQGSHFWKSSFPGDVALNQPDMCVYRRGRKKRVPYTKLQLKELENEYAINKFINKDKRRRISAATNLSERQV
TIWFQNRRVKDKKIVSKLKDTVS*

Gene Symbol:HOXD13
Accession:XM_011511068
Location:INTRON

Gene Symbol:HOXD13
Accession:XM_011511069
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21814222  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210952 CLINVAR
dbSNP (RS) rs878854400 CLINVAR
MedGen C5574994 CLINVAR
NCBI Gene HOXD13 CLINVAR
OMIM 142989 CLINVAR
  186000 CLINVAR
OMIM Allele 142989.0013 CLINVAR