ClinVar

NM_001111125.3(IQSEC2):c.960G>A (p.Ser320=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

• ChrX: 53255839 (on Assembly GRCh38)
• ChrX: 53285021 (on Assembly GRCh37)

Preferred name:

NM_001111125.3(IQSEC2):c.960G>A (p.Ser320=)

HGVS:

• NC_000023.11:g.53255839C>T
• NG_021296.2:g.70512G>A
• NM_001111125.3:c.960G>AMANE SELECT
• NM_001410736.1:c.960G>A
• NM_015075.2:c.345G>A
• NP_001104595.1:p.Ser320=
• NP_001397665.1:p.Ser320=
• NP_055890.1:p.Ser115=
• LRG_1194t1:c.960G>A
• LRG_1194:g.70512G>A
• LRG_1194p1:p.Ser320=
• NC_000023.10:g.53285021C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001111125.3:c.960G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410736.1:c.960G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015075.2:c.345G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1