ClinVar

NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94108702 (on Assembly GRCh38)
• Chr1: 94574258 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)

HGVS:

• NC_000001.11:g.94108702T>A
• NG_009073.1:g.17448A>T
• NG_009073.2:g.17446A>T
• NM_000350.3:c.317A>TMANE SELECT
• NM_001425324.1:c.317A>T
• NP_000341.2:p.Tyr106Phe
• NP_001412253.1:p.Tyr106Phe
• NC_000001.10:g.94574258T>A
• NM_000350.2:c.317A>T

This HGVS expression did not pass validation

Protein change:

Y106F

Links:

dbSNP: rs201150919

NCBI 1000 Genomes Browser:

rs201150919

Molecular consequence:

• NM_000350.3:c.317A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.317A>T - missense variant - [Sequence Ontology: SO:0001583]