ClinVar

NM_001111125.3(IQSEC2):c.952G>T (p.Ala318Ser)

Gene:

IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

• ChrX: 53255847 (on Assembly GRCh38)
• ChrX: 53285029 (on Assembly GRCh37)

Preferred name:

NM_001111125.3(IQSEC2):c.952G>T (p.Ala318Ser)

HGVS:

• NC_000023.11:g.53255847C>A
• NG_021296.2:g.70504G>T
• NM_001111125.3:c.952G>TMANE SELECT
• NM_001410736.1:c.952G>T
• NM_015075.2:c.337G>T
• NP_001104595.1:p.Ala318Ser
• NP_001397665.1:p.Ala318Ser
• NP_055890.1:p.Ala113Ser
• LRG_1194t1:c.952G>T
• LRG_1194:g.70504G>T
• LRG_1194p1:p.Ala318Ser
• NC_000023.10:g.53285029C>A
• NM_001111125.1:c.952G>T

This HGVS expression did not pass validation

Protein change:

A113S

Molecular consequence:

• NM_001111125.3:c.952G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410736.1:c.952G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015075.2:c.337G>T - missense variant - [Sequence Ontology: SO:0001583]