RGD:15159612 Rat Genome Database

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Variant: RGD:15159612 -  Homo sapiens

RGD ID: 15159612
RS ID: rs377053494
ClinVar ID: CV752143
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TFAM  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 60,150,587
GRCh38 10 58,390,827
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_073073.2:n.709A>G
NM_003201.3:c.504A>G
NG_053006.1:g.10685A>G
NC_000010.11:g.58390827A>G
More...
05/25/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TFAM
Accession:XM_011540121
Location:3UTRS;EXON

Gene Symbol:TFAM
Accession:XM_047425697
Location:3UTRS;EXON

Gene Symbol:TFAM
Accession:NM_003201
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFLRSMWGVLSALGRSGAELCTGCGSRLRSPFSFVYLPRWFSSVLASCPKKPVSSYLRFSKEQLPIFKAQNPDAKTTEL
IRRIAQRWRELPDSKKKIYQDAYRAEWQVYKEEISRFKEQLTPSQIMSLEKEIMDKHLKRKAMTKKKELTLLGKPKRPRS
AYNVYVAERFQEAKGDSPQEKLKTVKENWKNLSDSEKELYIQHAKEDETRYHNEMKSWEEQMIEVGRKDLLRRTIKKQRK
YGAEEC*

Gene Symbol:TFAM
Accession:NR_073073
Location:EXON;NON-CODING

Gene Symbol:TFAM
Accession:NM_001270782
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000925316 CLINVAR
dbSNP (RS) rs377053494 CLINVAR
MedGen C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene TFAM CLINVAR
OMIM 600438 CLINVAR