Variant #0000437152 (NC_000011.9:g.118896009C>A, SLC37A4(NM_001164277.1):c.1015G>T)

Individual ID 00000014
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.118896009C>A
DNA change (hg38) g.119025299C>A
Published as -
ISCN -
DB-ID SLC37A4_000011 See all 3 reported entries
Variant remarks -
Reference {dbSNP80356490}
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner -
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC37A4 NM_001164277.1 ?/? 9 c.1015G>T r.(?) p.(Gly339Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000014 DNA SEQ-NG - - ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM 22 Global Variome, with Curator vacancy