ClinVar

NM_004183.3(BEST1):c.-329C>T

Gene:

BEST1:bestrophin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 61950135 (on Assembly GRCh38)
• Chr11: 61717607 (on Assembly GRCh37)

Preferred name:

NM_004183.3(BEST1):c.-329C>T

HGVS:

• NC_000011.10:g.61950135C>T
• NG_009033.1:g.5252C>T
• NM_001139443.1:c.-321C>T
• NM_001300786.1:c.-321C>T
• NM_001300787.1:c.-321C>T
• NM_001363592.1:c.-329C>T
• NM_004183.3:c.-329C>T
• NC_000011.9:g.61717607C>T
• NR_134580.1:n.252C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs972354

NCBI 1000 Genomes Browser:

rs972354

Molecular consequence:

• NM_001363592.1:c.-329C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]