ClinVar

NM_002032.3(FTH1):c.387+12A>G

Genes:

BEST1:bestrophin 1 [Gene - OMIM - HGNC]
FTH1:ferritin heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 61964975 (on Assembly GRCh38)
• Chr11: 61732447 (on Assembly GRCh37)

Preferred name:

NM_002032.3(FTH1):c.387+12A>G

HGVS:

• NC_000011.10:g.61964975T>C
• NG_008346.1:g.7686A>G
• NG_009033.1:g.20092T>C
• NM_001139443.2:c.*1826T>C
• NM_001363591.2:c.*1826T>C
• NM_001363593.2:c.*1826T>C
• NM_002032.3:c.387+12A>GMANE SELECT
• NC_000011.9:g.61732447T>C
• NM_002032.2:c.387+12A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs201120647

NCBI 1000 Genomes Browser:

rs201120647

Molecular consequence:

• NM_001139443.2:c.*1826T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001363591.2:c.*1826T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001363593.2:c.*1826T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_002032.3:c.387+12A>G - intron variant - [Sequence Ontology: SO:0001627]