RGD:15109869 Rat Genome Database

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Variant: RGD:15109869 -  Homo sapiens

RGD ID: 15109869
RS ID: rs574345420
ClinVar ID: CV713749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDF3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 7,843,263
GRCh38 12 7,690,667
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.306C>T
NG_028167.1:g.10098C>T
NC_000012.12:g.7690667G>A
NC_000012.11:g.7843263G>A
More... 		07/18/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GDF3
Accession:NM_020634
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 102
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 RCV000960786 CLINVAR
dbSNP (RS) rs574345420 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GDF3 CLINVAR
OMIM 606522 CLINVAR