Genomic variant #0000130982

Individual ID 00081364
Chromosome 4
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.3044435G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID chr4_000421 See all 26 reported entries
Variant remarks -
Reference Kay, submitted EJHG
ClinVar ID -
dbSNP ID rs2471347
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Chris Kay




Variant on transcripts

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

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Genes screened     

Variants found     

Owner     
0000081477 DNA SEQ;arraySNP;PCR - - HTT 140 Chris Kay