ClinVar

NM_000350.3(ABCA4):c.4254-5T>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94030531 (on Assembly GRCh38)
• Chr1: 94496087 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.4254-5T>G

HGVS:

• NC_000001.11:g.94030531A>C
• NG_009073.1:g.95619T>G
• NG_009073.2:g.95617T>G
• NM_000350.3:c.4254-5T>GMANE SELECT
• NC_000001.10:g.94496087A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs886044551

NCBI 1000 Genomes Browser:

rs886044551

Molecular consequence:

• NM_000350.3:c.4254-5T>G - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2