ClinVar

NM_002016.2(FLG):c.6104G>T (p.Gly2035Val)

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: 152308782 (on Assembly GRCh38)
• Chr1: 152281258 (on Assembly GRCh37)

Preferred name:

NM_002016.2(FLG):c.6104G>T (p.Gly2035Val)

HGVS:

• NC_000001.11:g.152308782C>A
• NG_016190.1:g.21422G>T
• NM_002016.2:c.6104G>TMANE SELECT
• NP_002007.1:p.Gly2035Val
• NP_002007.1:p.Gly2035Val
• LRG_1028t1:c.6104G>T
• LRG_1028:g.21422G>T
• LRG_1028p1:p.Gly2035Val
• NC_000001.10:g.152281258C>A
• NM_002016.1:c.6104G>T

This HGVS expression did not pass validation

Protein change:

G2035V

Molecular consequence:

• NM_002016.2:c.6104G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1