ClinVar

NM_004183.4(BEST1):c.908A>T (p.Asp303Val)

Gene:

BEST1:bestrophin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 61959538 (on Assembly GRCh38)
• Chr11: 61727010 (on Assembly GRCh37)

Preferred name:

NM_004183.4(BEST1):c.908A>T (p.Asp303Val)

HGVS:

• NC_000011.10:g.61959538A>T
• NG_009033.1:g.14655A>T
• NM_001139443.2:c.728A>T
• NM_001300786.2:c.688-354A>T
• NM_001300787.2:c.728A>T
• NM_001363591.2:c.590A>T
• NM_001363592.1:c.1111A>T
• NM_001363593.2:c.-65A>T
• NM_004183.4:c.908A>TMANE SELECT
• NP_001132915.1:p.Asp243Val
• NP_001287716.1:p.Asp243Val
• NP_001350520.1:p.Asp197Val
• NP_001350521.1:p.Met371Leu
• NP_004174.1:p.Asp303Val
• NC_000011.9:g.61727010A>T
• NM_004183.3:c.908A>T
• NR_134580.2:n.1224A>T

This HGVS expression did not pass validation

Protein change:

D197V

Links:

dbSNP: rs1591301548

NCBI 1000 Genomes Browser:

rs1591301548

Molecular consequence:

• NM_001363593.2:c.-65A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001300786.2:c.688-354A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001139443.2:c.728A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300787.2:c.728A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363591.2:c.590A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363592.1:c.1111A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004183.4:c.908A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_134580.2:n.1224A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]