RGD:329353615 Rat Genome Database

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Variant: RGD:329353615 -  Homo sapiens

RGD ID: 329353615
ClinVar ID: CV2466931
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP15  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 50,658,957
GRCh38 X 50,915,957
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.50658957A>T
NC_000023.11:g.50915957A>T
NG_012894.1:g.10174A>T
NM_005448.2:c.529A>T
More... 		03/02/2023 missense variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMP15
Accession:NM_005448
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLSILRILFLCELVLFMEHRAQMAEGGQSSIALLAEAPTLPLIEELLEESPGEQPRKPRLLGHSLRYMLELYRRSADS
HGHPRENRTIGATMVRLVKPLTNVARPHRGTWHIQILGFPLRPNRGLYQLVRATVVYRHHLQLTRFNLSCHVEPWVQKNP
TNHFPSSEGDSSKPSLLSNAWKEMDITQLVQQRFWNNKGHRILRLRFMCQQQKDSGGLELWHGTSSLDIAFLLLYFNDTH
KSIRKAKFLPRGMEEFMERESLLRRTRQADGISAEVTASSSKHSGPENNQCSLHPFQISFRQLGWDHWIIAPPFYTPNYC
KGTCLRVLRDGLNSPNHAIIQNLINQLVDQSVPRPSCVPYKYVPISVLMIEANGSILYKEYEGMIAESCTCR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003201381 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene BMP15 CLINVAR
OMIM 300247 CLINVAR