ClinVar

NM_002016.2(FLG):c.9809G>A (p.Arg3270His)

Genes:

CCDST:cervical cancer associated DHX9 suppressive transcript [Gene - HGNC]
FLG:filaggrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 152305077 (on Assembly GRCh38)
• Chr1: 152277553 (on Assembly GRCh37)

Preferred name:

NM_002016.2(FLG):c.9809G>A (p.Arg3270His)

HGVS:

• NC_000001.11:g.152305077C>T
• NG_016190.1:g.25127G>A
• NM_002016.2:c.9809G>AMANE SELECT
• NP_002007.1:p.Arg3270His
• NP_002007.1:p.Arg3270His
• LRG_1028t1:c.9809G>A
• LRG_1028:g.25127G>A
• LRG_1028p1:p.Arg3270His
• NC_000001.10:g.152277553C>T
• NM_002016.1:c.9809G>A

This HGVS expression did not pass validation

Protein change:

R3270H

Molecular consequence:

• NM_002016.2:c.9809G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2