ClinVar

NM_004183.4(BEST1):c.1608T>C (p.Thr536=)

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: 61962762 (on Assembly GRCh38)
• Chr11: 61730234 (on Assembly GRCh37)

Preferred name:

NM_004183.4(BEST1):c.1608T>C (p.Thr536=)

HGVS:

• NC_000011.10:g.61962762T>C
• NG_008346.1:g.9899A>G
• NG_009033.1:g.17879T>C
• NM_001139443.2:c.1428T>C
• NM_001300786.2:c.1347T>C
• NM_001300787.2:c.1428T>C
• NM_001363591.2:c.1290T>C
• NM_001363592.1:c.*503T>C
• NM_001363593.2:c.636T>C
• NM_004183.4:c.1608T>CMANE SELECT
• NP_001132915.1:p.Thr476=
• NP_001287715.1:p.Thr449=
• NP_001287716.1:p.Thr476=
• NP_001350520.1:p.Thr430=
• NP_001350522.1:p.Thr212=
• NP_004174.1:p.Thr536=
• NC_000011.9:g.61730234T>C
• NM_004183.3:c.1608T>C
• NP_004174.1:p.(=)
• NR_134580.2:n.1924T>C
• p.Thr536Thr

This HGVS expression did not pass validation

Links:

dbSNP: rs1800009

NCBI 1000 Genomes Browser:

rs1800009

Molecular consequence:

• NM_001363592.1:c.*503T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_134580.2:n.1924T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001139443.2:c.1428T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001300786.2:c.1347T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001300787.2:c.1428T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363591.2:c.1290T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363593.2:c.636T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004183.4:c.1608T>C - synonymous variant - [Sequence Ontology: SO:0001819]