Full data view for gene HARS

This database is one of the "Eye disease" gene variant databases. NOTE: gene name changed from HARS to HARS1
Information The variants shown are described using the NM_002109.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/? 4 c.410G>A r.410g>a p.Arg137Gln Unknown - VUS g.140058699C>T g.140679114C>T - - HARS_000005 - - - - Unknown ? 1/726 - - - DNA SEQ - - - - - - ? ? - - - - - - 363 Anthony Antonellis
+?/. - c.410G>A r.(?) p.(Arg137Gln) Unknown - likely pathogenic g.140058699C>T g.140679114C>T HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410G>A r.(?) p.(Arg137Gln) Parent #1 - VUS g.140058699C>T g.140679114C>T - - HARS_000005 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs191391414 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.410G>A r.(?) p.(Arg137Gln) Parent #1 - pathogenic (recessive) g.140058699C>T g.140679114C>T - - HARS_000005 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case27419 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
?/. - c.410G>A r.(?) p.(Arg137Gln) Unknown - VUS g.140058699C>T - HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.410G>A r.(?) p.(Arg137Gln) Unknown - likely pathogenic g.140058699C>T - HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.410G>A r.(?) p.(Arg137Gln) Unknown - pathogenic g.140058699C>T - HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410G>A r.(?) p.(Arg137Gln) Unknown - VUS g.140058699C>T - HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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aliases include HRS, USH3B


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