Genomic variant #0000296470

Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.18122506G>A
DNA change (hg38) g.18122275G>A
Published as NHLRC1(NM_198586.2):c.332C>T (p.P111L)
ISCN -
DB-ID NHLRC1_000001 See all 63 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.33701 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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