ClinVar

NM_001356.5(DDX3X):c.1156C>T (p.Pro386Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 41345310 (on Assembly GRCh38)
• ChrX: 41204563 (on Assembly GRCh37)

Preferred name:

NM_001356.5(DDX3X):c.1156C>T (p.Pro386Ser)

HGVS:

• NC_000023.11:g.41345310C>T
• NG_012830.2:g.16913C>T
• NM_001193416.3:c.1156C>T
• NM_001193417.3:c.1108C>T
• NM_001356.5:c.1156C>TMANE SELECT
• NM_001363819.1:c.598C>T
• NP_001180345.1:p.Pro386Ser
• NP_001180346.1:p.Pro370Ser
• NP_001347.3:p.Pro386Ser
• NP_001350748.1:p.Pro200Ser
• NC_000023.10:g.41204563C>T
• NR_126093.1:n.2101C>T

This HGVS expression did not pass validation

Protein change:

P200S

Links:

dbSNP: rs2147356322

NCBI 1000 Genomes Browser:

rs2147356322

Molecular consequence:

• NM_001193416.3:c.1156C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193417.3:c.1108C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001356.5:c.1156C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363819.1:c.598C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_126093.1:n.2101C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]