Full data view for gene ABCA4


The expert classification of the variants can be found here.

To other Inherited Retinal Disease gene variant database:
Information The variants shown are described using the NM_000350.2 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     
+?/. 35 c.4849G>A r.(?) p.(Val1617Met) Parent #1 - likely pathogenic g.94486965C>T g.94021409C>T - - ABCA4_001063 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4849G>A r.(?) p.(Val1617Met) Parent #1 - likely pathogenic g.94486965C>T - 4849G>A (V1617M) - ABCA4_001063 - PubMed: Downs 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Downs 2007 - - - - - - - - - 1 Julia Lopez
+?/. 35 c.4849G>A r.[4849_5018del,4849_5109del,=] p. [Val1617Alafs*113,Val1617Met,=] Unknown - likely pathogenic (recessive) g.94486965C>T g.94021409C>T 4849G?A V1617M - ABCA4_001063 no variant 2nd chromosome PubMed: Downs 2007 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 40 PubMed: Downs 2007 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4849G>A r.[4849_5018del,4849_5109del,=] p. [Val1617Alafs*113,Val1617Met,=] Parent #1 - likely pathogenic (recessive) g.94486965C>T g.94021409C>T c.4849G>A p.(Val1617Alafs*113,Val1617Met) - ABCA4_001063 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67158 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. - c.4849G>A r.(4849_5018del,4849_5109del,=) p.(Val1617Alafs*113,Val1617Met) Parent #2 - likely pathogenic (recessive) g.94486965C>T g.94021409C>T - - ABCA4_001063 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0187 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.4849G>A r.(4849_5018del,4849_5109del,=) p.(Val1617Alafs*113,Val1617Met) Unknown - likely pathogenic (recessive) g.94486965C>T g.94021409C>T - - ABCA4_001063 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0296 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.4849G>A r.[(4849_5018del,4849_5109del,=)] p.[(Val1617Alafs*113,Val1617Met,=)] Unknown - likely pathogenic (recessive) g.94486965C>T g.94021409C>T - - ABCA4_001063 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-405 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. 35 c.4849G>A r.[4849_5018del,4849_5109del,=] p.[Val1617AlafsTer113,Val1617Met,=] Unknown ACMG likely pathogenic g.94486965C>T g.94021409C>T - - ABCA4_001063 ACMG PS3_M, PM2_sup, PM3, PP3_m; severity category severe Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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