ClinVar

NM_001354046.2(ARHGEF7):c.85G>A (p.Gly29Ser)

Genes:

ARHGEF7-AS2:ARHGEF7 antisense RNA 2 [Gene - HGNC]
ARHGEF7:Rho guanine nucleotide exchange factor 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 111115611 (on Assembly GRCh38)
• Chr13: 111767958 (on Assembly GRCh37)

Preferred name:

NM_001354046.2(ARHGEF7):c.85G>A (p.Gly29Ser)

HGVS:

• NC_000013.11:g.111115611G>A
• NM_001113511.2:c.85G>A
• NM_001113512.2:c.85G>A
• NM_001320852.1:c.85G>A
• NM_001354046.2:c.85G>AMANE SELECT
• NM_001354047.1:c.85G>A
• NM_001354048.1:c.-307+554G>A
• NM_001354056.1:c.-91+554G>A
• NM_145735.3:c.85G>A
• NP_001106983.1:p.Gly29Ser
• NP_001106984.1:p.Gly29Ser
• NP_001307781.1:p.Gly29Ser
• NP_001340975.1:p.Gly29Ser
• NP_001340976.1:p.Gly29Ser
• NP_663788.1:p.Gly29Ser
• NC_000013.10:g.111767958G>A
• NR_046667.1:n.68C>T

This HGVS expression did not pass validation

Protein change:

G29S

Links:

dbSNP: rs141702902

NCBI 1000 Genomes Browser:

rs141702902

Molecular consequence:

• NM_001354048.1:c.-307+554G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354056.1:c.-91+554G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001113511.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001113512.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320852.1:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354046.2:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354047.1:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145735.3:c.85G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_046667.1:n.68C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]