ClinVar

NM_025207.5(FLAD1):c.797del (p.Glu266fs)

Gene:

FLAD1:flavin adenine dinucleotide synthetase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 154988529 (on Assembly GRCh38)
• Chr1: 154961005 (on Assembly GRCh37)

Preferred name:

NM_025207.5(FLAD1):c.797del (p.Glu266fs)

HGVS:

• NC_000001.11:g.154988529del
• NG_042310.1:g.10236del
• NM_001184891.2:c.506del
• NM_001184892.2:c.500del
• NM_025207.5:c.797delMANE SELECT
• NM_201398.3:c.506del
• NP_001171820.1:p.Glu169fs
• NP_001171821.1:p.Glu167fs
• NP_079483.3:p.Glu266fs
• NP_958800.1:p.Glu169fs
• NC_000001.10:g.154961005del

This HGVS expression did not pass validation

Protein change:

E167fs

Links:

dbSNP: rs1657723514

NCBI 1000 Genomes Browser:

rs1657723514

Molecular consequence:

• NM_001184891.2:c.506del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001184892.2:c.500del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_025207.5:c.797del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_201398.3:c.506del - frameshift variant - [Sequence Ontology: SO:0001589]