ClinVar

NM_000350.3(ABCA4):c.4849-1G>C

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: 94021410 (on Assembly GRCh38)
• Chr1: 94486966 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.4849-1G>C

HGVS:

• NC_000001.11:g.94021410C>G
• NG_009073.2:g.104738G>C
• NG_082117.1:g.765C>G
• NM_000350.3:c.4849-1G>CMANE SELECT
• NC_000001.10:g.94486966C>G
• NG_009073.1:g.104740G>C
• NM_000350.2:c.4849-1G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs61750156

NCBI 1000 Genomes Browser:

rs61750156

Molecular consequence:

• NM_000350.3:c.4849-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]