ClinVar

NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser)

Genes:

ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
LOC126805793:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94021313 (on Assembly GRCh38)
• Chr1: 94486869 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser)

HGVS:

• NC_000001.11:g.94021313G>A
• NG_009073.1:g.104837C>T
• NG_009073.2:g.104835C>T
• NG_082117.1:g.668G>A
• NM_000350.3:c.4945C>TMANE SELECT
• NM_001425324.1:c.4723C>T
• NP_000341.2:p.Pro1649Ser
• NP_001412253.1:p.Pro1575Ser
• NC_000001.10:g.94486869G>A
• NM_000350.2:c.4945C>T

This HGVS expression did not pass validation

Protein change:

P1575S

Links:

dbSNP: rs886046563

NCBI 1000 Genomes Browser:

rs886046563

Molecular consequence:

• NM_000350.3:c.4945C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.4723C>T - missense variant - [Sequence Ontology: SO:0001583]