Variant #0000719835 (NC_000004.11:g.178363520T>G, AGA(NM_000027.3):c.10A>C)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.178363520T>G
DNA change (hg38) -
Published as AGA(NM_000027.3):c.10A>C (p.K4Q)
ISCN -
DB-ID AGA_000057
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00028 View details
Owner VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 -?/. - c.10A>C r.(?) p.(Lys4Gln)