Variant #0000258986 (NC_000004.11:g.178359960G>C, AGA(NM_000027.3):c.446C>G)

Chromosome 4
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.178359960G>C
DNA change (hg38) g.177438806G>C
Published as AGA(NM_000027.3):c.446C>G (p.T149S)
ISCN -
DB-ID AGA_000037 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.92527 View details
Owner VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 -/. - c.446C>G r.(?) p.(Thr149Ser)