RGD:38479771 Rat Genome Database

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Variant: RGD:38479771 -  Homo sapiens

RGD ID: 38479771
RS ID: rs764970795
ClinVar ID: CV926738
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDF3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 7,842,818
GRCh38 12 7,690,222
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.751G>A
NG_028167.1:g.10543G>A
NC_000012.12:g.7690222C>T
NC_000012.11:g.7842818C>T
More... 		07/22/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GDF3
Accession:NM_020634
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRFLPDLAFSFLLILALGQAVQFQEYVFLQFLGLDKAPSPQKFQPVPYILKKIFQDREAAATTGVSRDLCYVKELGVRG
NVLRFLPDQGFFLYPKKISQASSCLQKLLYFNLSAIKEREQLTLAQLGLDLGPNSYYNLGPELELALFLVQEPHVWGQTT
PKPGKMFVLRSVPWPQGAVHFNLLDVAKDWNDNPRKNFGLFLEILVKEDRDSGVNFQPEDTCARLRCSLHASLLVVTLNP
DQCHPSRKRRTAIPVPKLSCKNLCHRHQLFINFRDLGWHKWIIAPKGFMANYCHGECPFSLTISLNSSNYAFMQALMHAV
DPEIPQAVCIPTKLSPISMLYQDNNDNVILRHYEDMVVDECGCG*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:29735971  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001217236 CLINVAR
dbSNP (RS) rs764970795 CLINVAR
MedGen C3150967 CLINVAR
NCBI Gene GDF3 CLINVAR
OMIM 606522 CLINVAR
  613702 CLINVAR