Variant #0000276538 (NC_000009.11:g.130707699C>T, FAM102A(NM_001035254.2):c.864G>A)

Chromosome 9
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.130707699C>T
DNA change (hg38) g.127945420C>T
Published as FAM102A(NM_001035254.3):c.864G>A (p.P288=)
ISCN -
DB-ID FAM102A_000002
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) 0.00042 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FAM102A NM_001035254.2 -?/. - c.864G>A r.(?) p.(Pro288=)