RGD:126910945 Rat Genome Database

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Variant: RGD:126910945 -  Homo sapiens

RGD ID: 126910945
RS ID: rs142318812
ClinVar ID: CV1038766
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FITM2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 42,935,281
GRCh38 20 44,306,641
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001080472.2:c.773A>G
NM_001080472.4:c.773A>G
NC_000020.11:g.44306641T>C
NC_000020.10:g.42935281T>C
More... 		05/11/2021 missense variant likely benign|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FITM2
Accession:NM_001080472
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHLERCEWLLRGTLVRAAVRRYLPWALVASMLAGSLLKELSPLPESYLSNKRNVLNVYFVKVAWAWTFCLLLPFIALTN
YHLTGKAGLVLRRLSTLLVGTAIWYICTSIFSNIEHYTGSCYQSPALEGVRKEHQSKQQCHQEGGFWHGFDISGHSFLLT
FCALMIVEEMSVLHEVKTDRSHCLHTAITTLVVALGILTFIWVLMFLCTAVYFHNLSQKVFGTLFGLLSWYGTYGFWYPK
AFSPGLPPQSCSLNLKQGSYKK*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001354821 CLINVAR
  RCV003928856 CLINVAR
dbSNP (RS) rs142318812 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FITM2 CLINVAR
OMIM 612029 CLINVAR