RGD:15117206 Rat Genome Database

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Variant: RGD:15117206 -  Homo sapiens

RGD ID: 15117206
RS ID: rs375720989
ClinVar ID: CV769312
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDF3  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 7,848,163
GRCh38 12 7,695,567
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020634.3:c.162T>A
NG_028167.1:g.5198T>A
NC_000012.12:g.7695567A>T
NC_000012.11:g.7848163A>T
More... 		07/26/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GDF3
Accession:NM_020634
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRFLPDLAFSFLLILALGQAVQFQEYVFLQFLGLDKAPSPQKFQPVPYILKKIFQDREAAATTGVSRDLCYVKELGVRG
NVLRFLPDQGFFLYPKKISQASSCLQKLLYFNLSAIKEREQLTLAQLGLDLGPNSYYNLGPELELALFLVQEPHVWGQTT
PKPGKMFVLRSVPWPQGAVHFNLLDVAKDWNDNPRKNFGLFLEILVKEDRDSGVNFQPEDTCARLRCSLHASLLVVTLNP
DQCHPSRKRRAAIPVPKLSCKNLCHRHQLFINFRDLGWHKWIIAPKGFMANYCHGECPFSLTISLNSSNYAFMQALMHAV
DPEIPQAVCIPTKLSPISMLYQDNNDNVILRHYEDMVVDECGCG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000939795 CLINVAR
dbSNP (RS) rs375720989 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GDF3 CLINVAR
OMIM 606522 CLINVAR