ClinVar

NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)

Gene:

BEST1:bestrophin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 61959550 (on Assembly GRCh38)
• Chr11: 61727022 (on Assembly GRCh37)

Preferred name:

NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)

HGVS:

• NC_000011.10:g.61959550C>T
• NG_009033.1:g.14667C>T
• NM_001139443.2:c.740C>T
• NM_001300786.2:c.688-342C>T
• NM_001300787.2:c.740C>T
• NM_001363591.2:c.602C>T
• NM_001363592.1:c.1123C>T
• NM_001363593.2:c.-53C>T
• NM_004183.4:c.920C>TMANE SELECT
• NP_001132915.1:p.Thr247Ile
• NP_001287716.1:p.Thr247Ile
• NP_001350520.1:p.Thr201Ile
• NP_001350521.1:p.Pro375Ser
• NP_004174.1:p.Thr307Ile
• NC_000011.9:g.61727022C>T
• NM_004183.3:c.920C>T
• NR_134580.2:n.1236C>T
• O76090:p.Thr307Ile

This HGVS expression did not pass validation

Protein change:

P375S

Links:

UniProtKB: O76090#VAR_010487; dbSNP: rs281865269

NCBI 1000 Genomes Browser:

rs281865269

Molecular consequence:

• NM_001363593.2:c.-53C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001300786.2:c.688-342C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001139443.2:c.740C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300787.2:c.740C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363591.2:c.602C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363592.1:c.1123C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004183.4:c.920C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_134580.2:n.1236C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]