ClinVar

NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)

Genes:

FTH1:ferritin heavy chain 1 [Gene - OMIM - HGNC]
BEST1:bestrophin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 61962823 (on Assembly GRCh38)
• Chr11: 61730295 (on Assembly GRCh37)

Preferred name:

NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)

HGVS:

• NC_000011.10:g.61962823G>A
• NG_008346.1:g.9838C>T
• NG_009033.1:g.17940G>A
• NM_001139443.2:c.1489G>A
• NM_001300786.2:c.1408G>A
• NM_001300787.2:c.1489G>A
• NM_001363591.2:c.1351G>A
• NM_001363592.1:c.*564G>A
• NM_001363593.2:c.697G>A
• NM_004183.4:c.1669G>AMANE SELECT
• NP_001132915.1:p.Glu497Lys
• NP_001287715.1:p.Glu470Lys
• NP_001287716.1:p.Glu497Lys
• NP_001350520.1:p.Glu451Lys
• NP_001350522.1:p.Glu233Lys
• NP_004174.1:p.Glu557Lys
• NC_000011.9:g.61730295G>A
• NM_004183.3:c.1669G>A
• NR_134580.2:n.1985G>A
• O76090:p.Glu557Lys

This HGVS expression did not pass validation

Protein change:

E233K

Links:

UniProtKB: O76090#VAR_010489; dbSNP: rs147192139

NCBI 1000 Genomes Browser:

rs147192139

Molecular consequence:

• NM_001363592.1:c.*564G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001139443.2:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300786.2:c.1408G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300787.2:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363591.2:c.1351G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363593.2:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004183.4:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_134580.2:n.1985G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]