Full data view for gene AARS

NOTE: gene name changed from AARS to AARS1
Information The variants shown are described using the NM_001605.2 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.700C>T r.(?) p.(Pro234Ser) Unknown - VUS g.70304215G>A g.70270312G>A AARS(NM_001605.2):c.700C>T (p.P234S), AARS1(NM_001605.2):c.700C>T (p.P234S) - AARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.700C>T r.(?) p.(Pro234Ser) Unknown - likely benign g.70304215G>A g.70270312G>A AARS(NM_001605.2):c.700C>T (p.P234S), AARS1(NM_001605.2):c.700C>T (p.P234S) - AARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.700C>T r.(?) p.(Pro234Ser) Unknown - likely benign g.70304215G>A g.70270312G>A AARS(NM_001605.2):c.700C>T (p.P234S), AARS1(NM_001605.2):c.700C>T (p.P234S) - AARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700C>T r.(?) p.(Pro234Ser) Parent #1 - VUS g.70304215G>A g.70270312G>A - - AARS_000020 conflicting interpretations of pathogenicity; 20 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141840552 Germline - 20/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 20 Mohammed Faruq
?/. - c.700C>T r.(?) p.(Pro234Ser) Both (homozygous) - VUS g.70304215G>A g.70270312G>A - - AARS_000020 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141840552 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
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