RGD:155965200 Rat Genome Database

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Variant: RGD:155965200 -  Homo sapiens

RGD ID: 155965200
ClinVar ID: CV2395933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDF3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 7,848,131
GRCh38 12 7,695,535
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.194G>C
NG_028167.1:g.5230G>C
NC_000012.12:g.7695535C>G
NC_000012.11:g.7848131C>G
More... 		10/12/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GDF3
Accession:NM_020634
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRFLPDLAFSFLLILALGQAVQFQEYVFLQFLGLDKAPSPQKFQPVPYILKKIFQDREAAATTAVSRDLCYVKELGVRG
NVLRFLPDQGFFLYPKKISQASSCLQKLLYFNLSAIKEREQLTLAQLGLDLGPNSYYNLGPELELALFLVQEPHVWGQTT
PKPGKMFVLRSVPWPQGAVHFNLLDVAKDWNDNPRKNFGLFLEILVKEDRDSGVNFQPEDTCARLRCSLHASLLVVTLNP
DQCHPSRKRRAAIPVPKLSCKNLCHRHQLFINFRDLGWHKWIIAPKGFMANYCHGECPFSLTISLNSSNYAFMQALMHAV
DPEIPQAVCIPTKLSPISMLYQDNNDNVILRHYEDMVVDECGCG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004237488 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GDF3 CLINVAR
OMIM 606522 CLINVAR