ClinVar

NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)

Gene:

ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]

Variant type:

Inversion

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94001102 - 94001103 (on Assembly GRCh38)
• Chr1: 94466658 - 94466659 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)

HGVS:

• NC_000001.11:g.94001102_94001103inv
• NG_009073.1:g.125047_125048inv
• NG_009073.2:g.125045_125046inv
• NM_000350.3:c.6285_6286invMANE SELECT
• NM_001425324.1:c.6063_6064invTG
• NP_000341.2:p.Glu2096Lys
• NP_001412253.1:p.Glu2022Lys
• NC_000001.10:g.94466658_94466659delinsTG
• NC_000001.10:g.94466658_94466659inv
• NM_000350.2:c.6285_6286delinsCA
• NM_000350.2:c.6285_6286inv

This HGVS expression did not pass validation

Protein change:

E2022K

Links:

Molecular consequence:

• NM_000350.3:c.6285_6286inv - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.6063_6064invTG - missense variant - [Sequence Ontology: SO:0001583]