RGD:156135544 Rat Genome Database

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Variant: RGD:156135544 -  Homo sapiens

RGD ID: 156135544
ClinVar ID: CV2085810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFER  LOC130058203  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 2,034,256
GRCh38 16 1,984,255
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005262.3:c.37G>C
NG_016288.1:g.5107G>C
NC_000016.10:g.1984255G>C
NC_000016.9:g.2034256G>C
More... 		09/14/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GFER
Accession:NM_005262
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPGERGRFHGRNLFFLPGGARSEMMDDLATDARGRGAGRRDAAASASTPAQAPTSDSPVAEDASRRRPCRACVDFKTW
MRTQQKRDTKFREDCPPDREELGRHSWAVLHTLAAYYPDLPTPEQQQDMAQFIHLFSKFYPCEECAEDLRKRLCRNHPDT
RTRACFTQWLCHLHNEVNRKLGKPDFDCSKVDERWRDGWKDGSCD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002871792 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GFER CLINVAR
  LOC130058203 CLINVAR
OMIM 600924 CLINVAR