ClinVar

NM_001111125.3(IQSEC2):c.3549G>C (p.Pro1183=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

• ChrX: 53235137 (on Assembly GRCh38)
• ChrX: 53264319 (on Assembly GRCh37)

Preferred name:

NM_001111125.3(IQSEC2):c.3549G>C (p.Pro1183=)

HGVS:

• NC_000023.11:g.53235137C>G
• NG_021296.2:g.91214G>C
• NM_001111125.3:c.3549G>CMANE SELECT
• NM_001410736.1:c.*34G>C
• NM_015075.2:c.*34G>C
• NP_001104595.1:p.Pro1183=
• LRG_1194t1:c.3549G>C
• LRG_1194:g.91214G>C
• LRG_1194p1:p.Pro1183=
• NC_000023.10:g.53264319C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001410736.1:c.*34G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_015075.2:c.*34G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001111125.3:c.3549G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1