RGD:152982670 Rat Genome Database

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Variant: RGD:152982670 -  Homo sapiens

RGD ID: 152982670
RS ID: rs782379521
ClinVar ID: CV1677592
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP15  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 50,659,155
GRCh38 X 50,916,155
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.727A>G
NG_012894.1:g.10372A>G
NC_000023.11:g.50916155A>G
NC_000023.10:g.50659155A>G
More... 		05/04/2022 missense variant pathogenic OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED; OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMP15
Accession:NM_005448
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLLSILRILFLCELVLFMEHRAQMAEGGQSSIALLAEAPTLPLIEELLEESPGEQPRKPRLLGHSLRYMLELYRRSADS
HGHPRENRTIGATMVRLVKPLTNVARPHRGTWHIQILGFPLRPNRGLYQLVRATVVYRHHLQLTRFNLSCHVEPWVQKNP
TNHFPSSEGDSSKPSLMSNAWKEMDITQLVQQRFWNNKGHRILRLRFMCQQQKDSGGLELWHGTSSLDIAFLLLYFNDTH
KSVRKAKFLPRGMEEFMERESLLRRTRQADGISAEVTASSSKHSGPENNQCSLHPFQISFRQLGWDHWIIAPPFYTPNYC
KGTCLRVLRDGLNSPNHAIIQNLINQLVDQSVPRPSCVPYKYVPISVLMIEANGSILYKEYEGMIAESCTCR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002249303 CLINVAR
dbSNP (RS) rs782379521 CLINVAR
MedGen C1845294 CLINVAR
NCBI Gene BMP15 CLINVAR
OMIM 300247 CLINVAR
  300510 CLINVAR