ClinVar

NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94030524 (on Assembly GRCh38)
• Chr1: 94496080 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)

HGVS:

• NC_000001.11:g.94030524A>G
• NG_009073.1:g.95626T>C
• NG_009073.2:g.95624T>C
• NM_000350.3:c.4256T>CMANE SELECT
• NM_001425324.1:c.4034T>C
• NP_000341.2:p.Met1419Thr
• NP_001412253.1:p.Met1345Thr
• NC_000001.10:g.94496080A>G
• NM_000350.2:c.4256T>C

This HGVS expression did not pass validation

Protein change:

M1345T

Links:

dbSNP: rs142673376

NCBI 1000 Genomes Browser:

rs142673376

Molecular consequence:

• NM_000350.3:c.4256T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]