ClinVar

NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

• ChrX: 53235821 (on Assembly GRCh38)
• ChrX: 53265003 (on Assembly GRCh37)

Preferred name:

NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)

HGVS:

• NC_000023.11:g.53235821G>A
• NG_021296.2:g.90530C>T
• NM_001111125.3:c.3463C>TMANE SELECT
• NM_015075.2:c.2836+501C>T
• NP_001104595.1:p.Arg1155Trp
• LRG_1194t1:c.3463C>T
• LRG_1194:g.90530C>T
• LRG_1194p1:p.Arg1155Trp
• NC_000023.10:g.53265003G>A
• NM_001111125.1:c.3463C>T

This HGVS expression did not pass validation

Protein change:

R1155W

Links:

dbSNP: rs2074117985

NCBI 1000 Genomes Browser:

rs2074117985

Molecular consequence:

• NM_015075.2:c.2836+501C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001111125.3:c.3463C>T - missense variant - [Sequence Ontology: SO:0001583]