Genomic variant #0000277747

Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.26861514G>A
DNA change (hg38) -
Published as HPS4(NM_022081.5):c.710C>T (p.A237V)
ISCN -
DB-ID HPS4_000024 See all 2 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) 0.00415 View details
Owner VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HPS4 NM_022081.5 -/. - c.710C>T benign r.(?) p.(Ala237Val)