ClinVar

NM_001111125.3(IQSEC2):c.4387G>A (p.Ala1463Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

• ChrX: 53234299 (on Assembly GRCh38)
• ChrX: 53263481 (on Assembly GRCh37)

Preferred name:

NM_001111125.3(IQSEC2):c.4387G>A (p.Ala1463Thr)

HGVS:

• NC_000023.11:g.53234299C>T
• NG_021296.2:g.92052G>A
• NM_001111125.3:c.4387G>AMANE SELECT
• NM_001410736.1:c.*872G>A
• NM_015075.2:c.*872G>A
• NP_001104595.1:p.Ala1463Thr
• LRG_1194t1:c.4387G>A
• LRG_1194:g.92052G>A
• LRG_1194p1:p.Ala1463Thr
• NC_000023.10:g.53263481C>T
• NM_001111125.1:c.4387G>A

This HGVS expression did not pass validation

Protein change:

A1463T

Molecular consequence:

• NM_001410736.1:c.*872G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_015075.2:c.*872G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001111125.3:c.4387G>A - missense variant - [Sequence Ontology: SO:0001583]