All variants in the AASS gene

Information The variants shown are described using the NM_005763.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. - c.1678C>T r.(?) p.(Pro560Ser) - pathogenic g.121733190G>A g.122093136G>A - - AASS_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1678C>T r.(?) p.(Pro560Ser) - likely benign g.121733190G>A g.122093136G>A - - AASS_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74882337 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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