ClinVar

NM_025207.5(FLAD1):c.270G>C (p.Gln90His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 154983964 (on Assembly GRCh38)
• Chr1: 154956440 (on Assembly GRCh37)

Preferred name:

NM_025207.5(FLAD1):c.270G>C (p.Gln90His)

HGVS:

• NC_000001.11:g.154983964G>C
• NG_042310.1:g.5671G>C
• NM_001184891.2:c.-22G>C
• NM_001184892.2:c.-667G>C
• NM_025207.5:c.270G>CMANE SELECT
• NM_201398.3:c.-22G>C
• NP_079483.3:p.Gln90His
• NC_000001.10:g.154956440G>C
• NM_025207.4:c.270G>C

This HGVS expression did not pass validation

Protein change:

Q90H

Molecular consequence:

• NM_001184891.2:c.-22G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001184892.2:c.-667G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_201398.3:c.-22G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_025207.5:c.270G>C - missense variant - [Sequence Ontology: SO:0001583]