Variant #0000259464 (NC_000002.11:g.29462651G>C, ALK(NM_004304.4):c.2250C>G)

Chromosome 2
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.29462651G>C
DNA change (hg38) g.29239785G>C
Published as ALK(NM_004304.3):c.2250C>G (p.T750=)
ISCN -
DB-ID ALK_000043
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALK NM_004304.4 -?/. - c.2250C>G r.(?) p.(Thr750=)