Genomic variant #0000001179

Individual ID 00000087
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.18122506G>A
DNA change (hg38) g.18122275G>A
Published as -
ISCN -
DB-ID NHLRC1_000001 See all 63 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.33701 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NHLRC1 NM_198586.2 ?/. - c.332C>T - r.(?) p.(Pro111Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000087 DNA NGS - - AHI1, ATP7B, BTD, CYP21A2, ETFB, FRAS1, GLB1, IGHMBP2, NHLRC1, SERPINA1, SLC26A2 11 LOVD-team, but with Curator vacancy