ClinVar

NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

• ChrX: 53255812 (on Assembly GRCh38)
• ChrX: 53284994 (on Assembly GRCh37)

Preferred name:

NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=)

HGVS:

• NC_000023.11:g.53255812C>A
• NG_021296.2:g.70539G>T
• NM_001111125.3:c.987G>TMANE SELECT
• NM_015075.2:c.372G>T
• NP_001104595.1:p.Leu329=
• NP_055890.1:p.Leu124=
• LRG_1194t1:c.987G>T
• LRG_1194:g.70539G>T
• LRG_1194p1:p.Leu329=
• NC_000023.10:g.53284994C>A
• NM_001111125.1:c.987G>T
• NM_001111125.2:c.987G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1419492759

NCBI 1000 Genomes Browser:

rs1419492759

Molecular consequence:

• NM_001111125.3:c.987G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015075.2:c.372G>T - synonymous variant - [Sequence Ontology: SO:0001819]