Variant #0000259768 (NC_000017.10:g.3397702C>A, ASPA(NM_000049.2):c.693C>A)

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.3397702C>A
DNA change (hg38) g.3494408C>A
Published as ASPA(NM_000049.3):c.693C>A (p.Y231*)
ISCN -
DB-ID ASPA_008005 See all 4 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) 5.0E-5 View details
Owner VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ASPA NM_000049.2 +/. - c.693C>A r.(?) p.(Tyr231Ter)
SPATA22 NM_032598.4 +/. - c.-22899G>T r.(?) p.(=)
TRPV3 NM_145068.3 +/. - c.*19509G>T r.(=) p.(=)