ClinVar

NM_002016.2(FLG):c.9834C>T (p.His3278=)

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: 152305052 (on Assembly GRCh38)
• Chr1: 152277528 (on Assembly GRCh37)

Preferred name:

NM_002016.2(FLG):c.9834C>T (p.His3278=)

HGVS:

• NC_000001.11:g.152305052G>A
• NG_016190.1:g.25152C>T
• NM_002016.2:c.9834C>TMANE SELECT
• NP_002007.1:p.His3278=
• NP_002007.1:p.His3278=
• LRG_1028t1:c.9834C>T
• LRG_1028:g.25152C>T
• LRG_1028p1:p.His3278=
• NC_000001.10:g.152277528G>A
• NM_002016.1:c.9834C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_002016.2:c.9834C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2