RGD:156268810 Rat Genome Database

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Variant: RGD:156268810 -  Homo sapiens

RGD ID: 156268810
ClinVar ID: CV2135181
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP15  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 50,653,949
GRCh38 X 50,910,949
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005448.2:c.166C>T
NC_000023.11:g.50910949C>T
NC_000023.10:g.50653949C>T
NP_005439.2:p.Gln56Ter
More... 		06/27/2022 nonsense pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:BMP15
Accession:NM_005448
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLSILRILFLCELVLFMEHRAQMAEGGQSSIALLAEAPTLPLIEELLEESPGE*PRKPRLLGHSLRYMLELYRRSADS
HGHPRENRTIGATMVRLVKPLTNVARPHRGTWHIQILGFPLRPNRGLYQLVRATVVYRHHLQLTRFNLSCHVEPWVQKNP
TNHFPSSEGDSSKPSLMSNAWKEMDITQLVQQRFWNNKGHRILRLRFMCQQQKDSGGLELWHGTSSLDIAFLLLYFNDTH
KSIRKAKFLPRGMEEFMERESLLRRTRQADGISAEVTASSSKHSGPENNQCSLHPFQISFRQLGWDHWIIAPPFYTPNYC
KGTCLRVLRDGLNSPNHAIIQNLINQLVDQSVPRPSCVPYKYVPISVLMIEANGSILYKEYEGMIAESCTCR*
Variant Samples
Additional References at PubMed
PMID:11376106   PMID:28094433   PMID:28492532   PMID:31803742  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002988745 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene BMP15 CLINVAR
OMIM 300247 CLINVAR