All transcript 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.

14 entries on 1 page. Showing entries 1 - 14.
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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.-5646396_*16225318dup - - - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
?/? 1 c.14C>A r.14c>a p.Ala5Glu - VUS g.140070876G>T g.140691291G>T - - HARS_000006 - - - - Unknown ? 2/726 - - - Anthony Antonellis
+?/. - c.395C>T r.(?) p.Thr132Ile ACMG likely pathogenic g.140059374G>A g.140679789G>A - - HARS_000021 ACMG grading: PP3,PM2,PS3,PP5; reported in Safka Brozkova 2015. Brain 138: 2161 - - rs143473232 Germline - - - 0 - Andreas Laner
+?/. - c.395C>T r.(?) p.(Thr132Ile) ACMG likely pathogenic g.140059374G>A g.140679789G>A - - HARS_000021 ACMG: PS3,PM2,PP3,PP5; Safka Brozkova et al. 2015. Brain 138: 2161 - - rs143473232 Germline - - - 0 - Andreas Laner
+/? 4 c.410G>A r.410g>a p.Arg137Gln - VUS g.140058699C>T g.140679114C>T - - HARS_000005 - - - - Unknown ? 1/726 - - - Anthony Antonellis
?/. - c.410G>A r.(?) p.(Arg137Gln) - VUS g.140058699C>T g.140679114C>T - - HARS_000005 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs191391414 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+?/. - c.581T>C r.(?) p.(Ile194Thr) - VUS g.140057542A>G g.140677957A>G - - HARS_000022 - Cox, submitted 2019 - - Germline - - - 0 - Timothy Cox
?/? 5 c.605G>A r.605g>a p.Gly205Asp - VUS g.140057518C>T - - - HARS_000004 Variant Error [EREF/EREFSEQ]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown ? 2/726 - - - Anthony Antonellis
-/. - c.614G>A r.(?) p.(Gly205Asp) - benign g.140057509C>T g.140677924C>T - - DND1_000012 8 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs147288996 Germline - 8/2795 individuals - 0 - Mohammed Faruq
?/? 7 c.713T>C r.713u>c p.Val238Ala - VUS g.140057256A>G g.140677671A>G - - HARS_000003 - - - - Unknown ? 1/726 - - - Anthony Antonellis
?/? 9 c.1127A>G r.1127a>g p.Lys376Arg - VUS g.140056306T>C g.140676721T>C - - HARS_000002 - - - - Unknown ? 1/726 - - - Anthony Antonellis
?/. - c.1361A>C r.(?) p.(Tyr454Ser) - VUS g.140054361T>G g.140674776T>G - - HARS_000023 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs387906639 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1445C>T r.(?) p.(Thr482Met) - likely benign g.140054277G>A g.140674692G>A - - HARS_000008 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs147372931 Germline - 3/2795 individuals - 0 - Mohammed Faruq
?/? 12 c.1513C>T r.1513c>u p.Pro505Ser - VUS g.140053859G>A g.140674274G>A - - HARS_000001 - - - - Unknown ? 1/726 - - - Anthony Antonellis
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aliases include HRS, USH3B