RGD:15015351 Rat Genome Database

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Variant: RGD:15015351 -  Homo sapiens

RGD ID: 15015351
RS ID: rs1004658892
ClinVar ID: CV680033
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FITM2  LOC127893393  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 42,939,785
GRCh38 20 44,311,145
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001080472.4:c.4G>T
NM_001080472.1:c.4G>T
NP_001073941.1:p.Glu2Ter
NC_000020.10:g.42939785C>A
More... 		10/24/2019 nonsense pathogenic DEAFNESS, DYSTONIA, DEVELOPMENTAL DELAY, AND POOR GROWTH
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FITM2
Accession:NM_001080472
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
M*HLERCEWLLRGTLVRAAVRRYLPWALVASMLAGSLLKELSPLPESYLSNKRNVLNVYFVKVAWAWTFCLLLPFIALTN
YHLTGKAGLVLRRLSTLLVGTAIWYICTSIFSNIEHYTGSCYQSPALEGVRKEHQSKQQCHQEGGFWHGFDISGHSFLLT
FCALMIVEEMSVLHEVKTDRSHCLHTAITTLVVALGILTFIWVLMFLCTAVYFHNLSQKVFGTLFGLLSWYGTYGFWYPK
AFSPGLPPQSCSLNLKQDSYKK*
Variant Samples
Additional References at PubMed
PMID:28067622  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000853568 CLINVAR
dbSNP (RS) rs1004658892 CLINVAR
MedGen C5231435 CLINVAR
NCBI Gene FITM2 CLINVAR
OMIM 612029 CLINVAR
  618635 CLINVAR
OMIM Allele 612029.0001 CLINVAR