ClinVar

NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94043470 (on Assembly GRCh38)
• Chr1: 94509026 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)

HGVS:

• NC_000001.11:g.94043470G>A
• NG_009073.1:g.82680C>T
• NG_009073.2:g.82678C>T
• NM_000350.3:c.3056C>TMANE SELECT
• NM_001425324.1:c.2834C>T
• NP_000341.2:p.Thr1019Met
• NP_001412253.1:p.Thr945Met
• NC_000001.10:g.94509026G>A
• NM_000350.2:c.3056C>T
• P78363:p.Thr1019Met

This HGVS expression did not pass validation

Protein change:

T1019M

Links:

UniProtKB: P78363#VAR_012554; dbSNP: rs201855602

NCBI 1000 Genomes Browser:

rs201855602

Molecular consequence:

• NM_000350.3:c.3056C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.2834C>T - missense variant - [Sequence Ontology: SO:0001583]