Genomic variant #0000000004

Individual ID 00000001
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.2622184C>T
Reference -
DB-ID MMEL1_000001
dbSNP ID rs3890745
Frequency 0.6338
Homozygous 130
Heterozygote 169
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMEL1 NM_033467.3 ./. - c.154+7147G>A - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin