RGD:8562504 Rat Genome Database

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Variant: RGD:8562504 -  Homo sapiens

RGD ID: 8562504
RS ID: rs137853320
ClinVar ID: CV26512
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP15  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 50,659,059
GRCh38 X 50,916,059
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.631C>T
NG_012894.1:g.10276C>T
NC_000023.11:g.50916059C>T
NC_000023.10:g.50659059C>T
More...
03/09/2010 nonsense|stop-gain pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMP15
Accession:NM_005448
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLSILRILFLCELVLFMEHRAQMAEGGQSSIALLAEAPTLPLIEELLEESPGEQPRKPRLLGHSLRYMLELYRRSADS
HGHPRENRTIGATMVRLVKPLTNVARPHRGTWHIQILGFPLRPNRGLYQLVRATVVYRHHLQLTRFNLSCHVEPWVQKNP
TNHFPSSEGDSSKPSLMSNAWKEMDITQLVQQRFWNNKGHRILRLRFMCQ*QKDSGGLELWHGTSSLDIAFLLLYFNDTH
KSIRKAKFLPRGMEEFMERESLLRRTRQADGISAEVTASSSKHSGPENNQCSLHPFQISFRQLGWDHWIIAPPFYTPNYC
KGTCLRVLRDGLNSPNHAIIQNLINQLVDQSVPRPSCVPYKYVPISVLMIEANGSILYKEYEGMIAESCTCR*

Variant Samples
Additional References at PubMed
PMID:16508750  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012228 CLINVAR
dbSNP (RS) rs137853320 CLINVAR
MedGen C1845295 CLINVAR
NCBI Gene BMP15 CLINVAR
OMIM 300247 CLINVAR
OMIM Allele 300247.0004 CLINVAR