ClinVar

NM_001353921.2(ARHGEF9):c.1321G>A (p.Gly441Ser)

Gene:

ARHGEF9:Cdc42 guanine nucleotide exchange factor 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq11.1

Genomic location:

• ChrX: 63655494 (on Assembly GRCh38)
• ChrX: 62875374 (on Assembly GRCh37)

Preferred name:

NM_001353921.2(ARHGEF9):c.1321G>A (p.Gly441Ser)

HGVS:

• NC_000023.11:g.63655494C>T
• NG_016975.1:g.135053G>A
• NM_001173479.2:c.1141G>A
• NM_001173480.2:c.994G>A
• NM_001330495.2:c.1237G>A
• NM_001353921.2:c.1321G>AMANE SELECT
• NM_001353922.2:c.1189G>A
• NM_001353923.1:c.1339G>A
• NM_001353924.2:c.1120G>A
• NM_001353926.2:c.1120G>A
• NM_001353927.2:c.1105G>A
• NM_001353928.2:c.1168G>A
• NM_001369030.1:c.1300G>A
• NM_001369031.1:c.1300G>A
• NM_001369032.1:c.1300G>A
• NM_001369033.1:c.1237G>A
• NM_001369034.1:c.1237G>A
• NM_001369035.1:c.1237G>A
• NM_001369036.1:c.1237G>A
• NM_001369037.1:c.1237G>A
• NM_001369038.1:c.1237G>A
• NM_001369039.1:c.1120G>A
• NM_001369040.1:c.1120G>A
• NM_001369041.1:c.1105G>A
• NM_001369042.1:c.994G>A
• NM_001369043.1:c.993+10392G>A
• NM_001369044.1:c.993+10392G>A
• NM_001369045.1:c.754G>A
• NM_015185.3:c.1300G>A
• NP_001166950.1:p.Gly381Ser
• NP_001166951.1:p.Gly332Ser
• NP_001317424.1:p.Gly413Ser
• NP_001340850.1:p.Gly441Ser
• NP_001340851.1:p.Gly397Ser
• NP_001340852.1:p.Gly447Ser
• NP_001340853.1:p.Gly374Ser
• NP_001340855.1:p.Gly374Ser
• NP_001340856.1:p.Gly369Ser
• NP_001340857.1:p.Gly390Ser
• NP_001355959.1:p.Gly434Ser
• NP_001355960.1:p.Gly434Ser
• NP_001355961.1:p.Gly434Ser
• NP_001355962.1:p.Gly413Ser
• NP_001355963.1:p.Gly413Ser
• NP_001355964.1:p.Gly413Ser
• NP_001355965.1:p.Gly413Ser
• NP_001355966.1:p.Gly413Ser
• NP_001355967.1:p.Gly413Ser
• NP_001355968.1:p.Gly374Ser
• NP_001355969.1:p.Gly374Ser
• NP_001355970.1:p.Gly369Ser
• NP_001355971.1:p.Gly332Ser
• NP_001355974.1:p.Gly252Ser
• NP_056000.1:p.Gly434Ser
• NC_000023.10:g.62875374C>T
• NM_015185.2:c.1300G>A

This HGVS expression did not pass validation

Protein change:

G252S

Links:

dbSNP: rs2048820687

NCBI 1000 Genomes Browser:

rs2048820687

Molecular consequence:

• NM_001369043.1:c.993+10392G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369044.1:c.993+10392G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001173479.2:c.1141G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173480.2:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330495.2:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353921.2:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353922.2:c.1189G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353923.1:c.1339G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353924.2:c.1120G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353926.2:c.1120G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353927.2:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353928.2:c.1168G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369030.1:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369031.1:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369032.1:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369033.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369034.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369035.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369036.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369037.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369038.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369039.1:c.1120G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369040.1:c.1120G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369041.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369042.1:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369045.1:c.754G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015185.3:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1