RGD:405254585 Rat Genome Database

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Variant: RGD:405254585 -  Homo sapiens

RGD ID: 405254585
ClinVar ID: CV3175423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXD13  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 176,958,304
GRCh38 2 176,093,576
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000523.4:c.686A>G
NG_008137.1:g.5773A>G
NC_000002.12:g.176093576A>G
NC_000002.11:g.176958304A>G
More... 		01/07/2024 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HOXD13
Accession:NM_000523
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRAGSWDMDGLRADGGGAGGAPASSSSSSVAAAAASGQCRGFLSAPVFAGTHSGRAAAAAAAAAAAAAAASGFAYPGTS
ERTGSSSSSSSSAVVAARPEAPPAKECPAPTPAAAAAAPPSAPALGYGYHFGNGYYSCRMSHGVGLQQNALKSSPHASLG
GFPVEKYMDVSGLASSSVPANEVPARAKEVSFYQGYTSPYQHVPGYIDMVSTFGSGEPRHEAYISMEGCQSWTLANGWNS
QVYCTKDQPQGSHFWKSSFPGDVALNQPDMCVYRRGRKKRVPYTKLQLKELENEYAINKFINKDKRRRISAATNLSERQV
TIWFQNRRVKDKKIVSKLKDTVS*

Gene Symbol:HOXD13
Accession:XM_011511069
Location:INTRON

Gene Symbol:HOXD13
Accession:XM_011511068
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003871690 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HOXD13 CLINVAR
OMIM 142989 CLINVAR