ClinVar

NM_001356.5(DDX3X):c.1615G>C (p.Gly539Arg)

Gene:

DDX3X:DEAD-box helicase 3 X-linked [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 41346622 (on Assembly GRCh38)
• ChrX: 41205875 (on Assembly GRCh37)

Preferred name:

NM_001356.5(DDX3X):c.1615G>C (p.Gly539Arg)

HGVS:

• NC_000023.11:g.41346622G>C
• NG_012830.2:g.18225G>C
• NM_001193416.3:c.1615G>C
• NM_001193417.3:c.1567G>C
• NM_001356.5:c.1615G>CMANE SELECT
• NM_001363819.1:c.1057G>C
• NP_001180345.1:p.Gly539Arg
• NP_001180346.1:p.Gly523Arg
• NP_001347.3:p.Gly539Arg
• NP_001350748.1:p.Gly353Arg
• NC_000023.10:g.41205875G>C
• NR_126093.1:n.2560G>C

This HGVS expression did not pass validation

Protein change:

G353R

Links:

dbSNP: rs2147359364

NCBI 1000 Genomes Browser:

rs2147359364

Molecular consequence:

• NM_001193416.3:c.1615G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193417.3:c.1567G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001356.5:c.1615G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363819.1:c.1057G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_126093.1:n.2560G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1