Variant #0000321155 (NC_000001.10:g.179883134T>C, TOR1AIP1(NM_001267578.1):c.912T>C)

Chromosome 1
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.179883134T>C
DNA change (hg38) g.179913999T>C
Published as TOR1AIP1(NM_001267578.1):c.912T>C (p.N304=, p.(=))
ISCN -
DB-ID TOR1AIP1_000012 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) 0.00225 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 ?/. - c.912T>C r.(?) p.(Asn304=)