Genomic variant #0000334135

Chromosome X
Allele Unknown
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.49958555A>G
DNA change (hg38) g.50193904A>G
Published as AKAP4(NM_003886.2):c.809T>C (p.(Ile270Thr))
ISCN -
DB-ID AKAP4_000005
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) 0.00038 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AKAP4 NM_003886.2 ?/. - c.809T>C r.(?) p.(Ile270Thr)