Unique variants in gene HARS

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_002109.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
./. 1 - c.-5646396_*16225318dup - - - g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
?/? 1 1 c.14C>A - r.14c>a p.Ala5Glu g.140070876G>T - - - HARS_000006 - - - - Unknown ? 2/726 - - - Anthony Antonellis
+?/. 1 - c.395C>T ACMG: 4 r.(?) p.Thr132Ile g.140059374G>A - - - HARS_000021 ACMG grading: PP3,PM2,PS3,PP5; reported in Safka Brozkova 2015. Brain 138: 2161 - - rs143473232 Germline - - - - - Andreas Laner
+/? 1 4 c.410G>A - r.410g>a p.Arg137Gln g.140058699C>T - - - HARS_000005 - - - - Unknown ? 1/726 - - - Anthony Antonellis
+?/. 1 - c.581T>C VUS r.(?) p.(Ile194Thr) g.140057542A>G - - - HARS_000022 - Cox, submitted 2019 - - Germline - - - - - Timothy Cox
?/? 1 5 c.605G>A - r.605g>a p.Gly205Asp g.140057518C>T - - - HARS_000004 - - - - Unknown ? 2/726 - - - Anthony Antonellis
?/? 1 7 c.713T>C - r.713u>c p.Val238Ala g.140057256A>G - - - HARS_000003 - - - - Unknown ? 1/726 - - - Anthony Antonellis
?/? 1 9 c.1127A>G - r.1127a>g p.Lys376Arg g.140056306T>C - - - HARS_000002 - - - - Unknown ? 1/726 - - - Anthony Antonellis
?/? 1 12 c.1513C>T - r.1513c>u p.Pro505Ser g.140053859G>A - - - HARS_000001 - - - - Unknown ? 1/726 - - - Anthony Antonellis
Legend  

aliases include HRS, USH3B