Variant #0000651440 (NC_000004.11:g.178359970A>C, AGA(NM_000027.3):c.436T>G)

Individual ID 00293583
Chromosome 4
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.178359970A>C
DNA change (hg38) g.177438816A>C
Published as -
ISCN -
DB-ID AGA_000051 See all 2 reported entries
Variant remarks conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs146381591
Origin Germline
Segregation -
Frequency 3/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00277 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 ?/. - c.436T>G r.(?) p.(Leu146Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294751 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq