Genomic variant #0000040397

Individual ID 00019914
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.136616754C=
DNA change (hg38) -
Published as LCT -22018G/A
ISCN -
DB-ID MCM6_000000 See all 12 reported entries
Variant remarks -
Reference PubMed: Enattah 2002, OMIM:var0002
ClinVar ID -
dbSNP ID rs182549
Origin Germline
Segregation yes
Frequency 45/45 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MCM6 NM_005915.5 -?/. 9i c.1362+117G= - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019906 DNA SEQ - - LCT, MCM6 2 Johan den Dunnen