Unique variants in gene HIRA

Information The variants shown are described using the NM_003325.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.-2411563_*479676dup - r.? p.? g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-2045120_*295800del - r.0? p.0? g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-2045120_*425400del - r.0? p.0? g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-2045120_*429924del - r.0? p.0? g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.-4477A>C VUS r.(?) p.(=) g.19423476T>G - MRPL40(NM_003776.2):c.612T>G (p.(Phe204Leu)) - MRPL40_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.302+1G>C VUS r.spl? p.? g.19394706C>G - HIRA(NM_003325.3):c.302+1G>C (r.spl?) - HIRA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.756C>G likely benign r.(?) p.(Ile252Met) g.19381931G>C - HIRA(NM_003325.3):c.756C>G (p.(Ile252Met)) - HIRA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1165G>A likely benign r.(?) p.(Ala389Thr) g.19373208C>T - HIRA(NM_003325.3):c.1165G>A (p.(Ala389Thr)) - HIRA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1613+8G>T likely benign r.(=) p.(=) g.19365384C>A - HIRA(NM_003325.3):c.1613+8G>T (p.(=)) - HIRA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1999G>T VUS r.(?) p.(Ala667Ser) g.19348846C>A - HIRA(NM_003325.3):c.1999G>T (p.(Ala667Ser)) - HIRA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2396+8del likely benign r.(=) p.(=) g.19344406del - HIRA(NM_003325.3):c.2396+8delG (p.(=)) - HIRA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*341A>G benign r.(=) p.(=) g.19318622T>C - HIRA(NM_003325.3):c.*341A>G - HIRA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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