Variant #0000249532 (NC_000004.11:g.178358546A>G, AGA(NM_000027.3):c.622+13T>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.178358546A>G
DNA change (hg38) g.177437392A>G
Published as AGA(NM_000027.3):c.622+13T>C
ISCN -
DB-ID AGA_000036
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) 0.01192 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.622+13T>C r.(=) p.(=)