ClinVar

NM_014629.4(ARHGEF10):c.151G>A (p.Glu51Lys)

Gene:

ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.3

Genomic location:

• Chr8: 1858073 (on Assembly GRCh38)
• Chr8: 1806239 (on Assembly GRCh37)

Preferred name:

NM_014629.4(ARHGEF10):c.151G>A (p.Glu51Lys)

HGVS:

• NC_000008.11:g.1858073G>A
• NG_008480.1:g.39091G>A
• NM_001308152.2:c.151G>A
• NM_001308153.2:c.223G>A
• NM_014629.4:c.151G>AMANE SELECT
• NP_001295081.1:p.Glu51Lys
• NP_001295082.1:p.Glu75Lys
• NP_055444.2:p.Glu51Lys
• LRG_234:g.39091G>A
• NC_000008.10:g.1806239G>A

This HGVS expression did not pass validation

Protein change:

E51K

Links:

dbSNP: rs775558900

NCBI 1000 Genomes Browser:

rs775558900

Molecular consequence:

• NM_001308152.2:c.151G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308153.2:c.223G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014629.4:c.151G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1