Full data view for gene AACS

Information The variants shown are described using the NM_023928.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.844A>G r.(?) p.(Ser282Gly) Unknown - likely benign g.125591743A>G - AACS(NM_023928.5):c.844A>G (p.S282G) - AACS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1388A>G r.(?) p.(Asn463Ser) Both (homozygous) - VUS g.125612785A>G g.125128239A>G - - AACS_000004 - PubMed: Riazuddin 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID PKMR159 PubMed: Riazuddin 2017 - - yes Pakistan Punjabi - 0 - - 1 Johan den Dunnen
?/. - c.1535T>G r.(?) p.(Phe512Cys) Unknown - VUS g.125613992T>G g.125129446T>G - - AACS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1549+3C>G r.spl? p.? Unknown - VUS g.125614009C>G g.125129463C>G AACS(NM_023928.5):c.1549+3C>G - AACS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1822C>T r.(?) p.(Arg608Cys) Both (homozygous) - VUS g.125621351C>T - - - AACS_000005 - PubMed: Riazuddin 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID PKMR159 PubMed: Riazuddin 2017 - - yes Pakistan Punjabi - 0 - - 1 Johan den Dunnen
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