ClinVar

NM_007023.4(RAPGEF4):c.2855G>A (p.Arg952His)

Gene:

RAPGEF4:Rap guanine nucleotide exchange factor 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 173048601 (on Assembly GRCh38)
• Chr2: 173913329 (on Assembly GRCh37)

Preferred name:

NM_007023.4(RAPGEF4):c.2855G>A (p.Arg952His)

HGVS:

• NC_000002.12:g.173048601G>A
• NM_001100397.2:c.2423G>A
• NM_001282899.2:c.2396G>A
• NM_001282900.2:c.2342G>A
• NM_001282901.2:c.2195G>A
• NM_001375864.1:c.2825G>A
• NM_001375865.1:c.2822G>A
• NM_001375866.1:c.2801G>A
• NM_001375867.1:c.2762G>A
• NM_001375868.1:c.2708G>A
• NM_001375869.1:c.2702G>A
• NM_001375870.1:c.2790G>A
• NM_001375871.1:c.2654G>A
• NM_001375872.1:c.2651G>A
• NM_001375873.1:c.2648G>A
• NM_001375874.1:c.2736G>A
• NM_007023.4:c.2855G>AMANE SELECT
• NP_001093867.1:p.Arg808His
• NP_001269828.1:p.Arg799His
• NP_001269829.1:p.Arg781His
• NP_001269830.1:p.Arg732His
• NP_001362793.1:p.Arg942His
• NP_001362794.1:p.Arg941His
• NP_001362795.1:p.Arg934His
• NP_001362796.1:p.Arg921His
• NP_001362797.1:p.Arg903His
• NP_001362798.1:p.Arg901His
• NP_001362799.1:p.Ala930=
• NP_001362800.1:p.Arg885His
• NP_001362801.1:p.Arg884His
• NP_001362802.1:p.Arg883His
• NP_001362803.1:p.Ala912=
• NP_008954.2:p.Arg952His
• NC_000002.11:g.173913329G>A
• NR_164739.1:n.3126G>A
• NR_164740.1:n.3072G>A
• NR_164741.1:n.2852G>A

This HGVS expression did not pass validation

Protein change:

R732H

Molecular consequence:

• NM_001100397.2:c.2423G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282899.2:c.2396G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282900.2:c.2342G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282901.2:c.2195G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375864.1:c.2825G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375865.1:c.2822G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375866.1:c.2801G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375867.1:c.2762G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375868.1:c.2708G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375869.1:c.2702G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375871.1:c.2654G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375872.1:c.2651G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375873.1:c.2648G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007023.4:c.2855G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_164739.1:n.3126G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_164740.1:n.3072G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_164741.1:n.2852G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001375870.1:c.2790G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375874.1:c.2736G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1