ClinVar

NM_001111125.3(IQSEC2):c.2908C>T (p.Arg970Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

• ChrX: 53241891 (on Assembly GRCh38)
• ChrX: 53271073 (on Assembly GRCh37)

Preferred name:

NM_001111125.3(IQSEC2):c.2908C>T (p.Arg970Cys)

HGVS:

• NC_000023.11:g.53241891G>A
• NG_021296.2:g.84460C>T
• NM_001111125.3:c.2908C>TMANE SELECT
• NM_015075.2:c.2293C>T
• NP_001104595.1:p.Arg970Cys
• NP_055890.1:p.Arg765Cys
• LRG_1194t1:c.2908C>T
• LRG_1194:g.84460C>T
• LRG_1194p1:p.Arg970Cys
• NC_000023.10:g.53271073G>A
• NM_001111125.1:c.2908C>T
• NM_001111125.2:c.2908C>T

This HGVS expression did not pass validation

Protein change:

R765C

Links:

dbSNP: rs2074227300

NCBI 1000 Genomes Browser:

rs2074227300

Molecular consequence:

• NM_001111125.3:c.2908C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015075.2:c.2293C>T - missense variant - [Sequence Ontology: SO:0001583]