RGD:14352701 Rat Genome Database

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Variant: RGD:14352701 -  Homo sapiens

RGD ID: 14352701
RS ID: rs773113395
ClinVar ID: CV581880
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 6,750,951
GRCh38 20 6,770,304
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.10:g.6750951A>C
NG_023233.1:g.7207A>C
NM_001200.3:c.178A>C
NP_001191.1:p.Met60Leu
More... 		10/08/2018 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
Hearing Loss  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:BMP2
Accession:NM_001200
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAGTRCLLALLLPQVLLGGAAGLVPELGRRKFAAASSGRPSSQPSDEVLSEFELRLLSLFGLKQRPTPSRDAVVPPYML
DLYRRHSGQPGSPAPDHRLERAASRANTVRSFHHEESLEELPETSGKTTRRFFFNLSSIPTEEFITSAELQVFREQMQDA
LGNNSSFHHRINIYEIIKPATANSKFPVTRLLDTRLVNQNASRWESFDVTPAVMRWTAQGHANHGFVVEVAHLEEKQGVS
KRHVRISRSLHQDEHSWSQIRPLLVTFGHDGKGHPLHKREKRQAKHKQRKRLKSSCKRHPLYVDFSDVGWNDWIVAPPGY
HAFYCHGECPFPLADHLNSTNHAIVQTLVNSVNSKIPKACCVPTELSAISMLYLDENEKVVLKNYQDMVVEGCGCR*
Variant Samples
Additional References at PubMed
PMID:30872814  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000754562 CLINVAR
dbSNP (RS) rs773113395 CLINVAR
MedGen C1384666 CLINVAR
NCBI Gene BMP2 CLINVAR
OMIM 112261 CLINVAR