Variant #0000651442 (NC_000004.11:g.178360822G>A, AGA(NM_000027.3):c.302C>T)

Individual ID 00293585
Chromosome 4
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178360822G>A
DNA change (hg38) g.177439668G>A
Published as -
ISCN -
DB-ID AGA_000010 See all 3 reported entries
Variant remarks 5 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs121964908
Origin Germline
Segregation -
Frequency 5/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +?/. - c.302C>T r.(?) p.(Ala101Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294753 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq