ClinVar

NM_004183.4(BEST1):c.874G>A (p.Glu292Lys)

Gene:

BEST1:bestrophin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 61959504 (on Assembly GRCh38)
• Chr11: 61726976 (on Assembly GRCh37)

Preferred name:

NM_004183.4(BEST1):c.874G>A (p.Glu292Lys)

HGVS:

• NC_000011.10:g.61959504G>A
• NG_009033.1:g.14621G>A
• NM_001139443.2:c.694G>A
• NM_001300786.2:c.688-388G>A
• NM_001300787.2:c.694G>A
• NM_001363591.2:c.556G>A
• NM_001363592.1:c.1077G>A
• NM_001363593.2:c.-99G>A
• NM_004183.4:c.874G>AMANE SELECT
• NP_001132915.1:p.Glu232Lys
• NP_001287716.1:p.Glu232Lys
• NP_001350520.1:p.Glu186Lys
• NP_001350521.1:p.Gln359=
• NP_004174.1:p.Glu292Lys
• NC_000011.9:g.61726976G>A
• NM_004183.3:c.874G>A
• NR_134580.2:n.1190G>A

This HGVS expression did not pass validation

Protein change:

E186K

Links:

dbSNP: rs886039311

NCBI 1000 Genomes Browser:

rs886039311

Molecular consequence:

• NM_001363593.2:c.-99G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001300786.2:c.688-388G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001139443.2:c.694G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300787.2:c.694G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363591.2:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004183.4:c.874G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_134580.2:n.1190G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001363592.1:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]