Variant #0000320951 (NC_000001.10:g.145528280C>T, ITGA10(NM_003637.3):c.301C>T)

Chromosome 1
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.145528280C>T
DNA change (hg38) g.145906796G>A
Published as ITGA10(NM_003637.3):c.301C>T (p.(His101Tyr))
ISCN -
DB-ID ITGA10_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) 2.0E-5 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ITGA10 NM_003637.3 -?/. - c.301C>T r.(?) p.(His101Tyr)
PEX11B NM_003846.2 -?/. - c.*5361C>T r.(=) p.(=)