ClinVar

NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.3

Genomic location:

• Chr8: 1860177 (on Assembly GRCh38)
• Chr8: 1808343 (on Assembly GRCh37)

Preferred name:

NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=)

HGVS:

• NC_000008.11:g.1860177C>T
• NG_008480.1:g.41195C>T
• NM_001308152.2:c.474C>T
• NM_001308153.2:c.546C>T
• NM_014629.4:c.474C>TMANE SELECT
• NP_001295081.1:p.Asp158=
• NP_001295082.1:p.Asp182=
• NP_055444.2:p.Asp158=
• LRG_234:g.41195C>T
• NC_000008.10:g.1808343C>T
• NM_014629.3:c.474C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs147914724

NCBI 1000 Genomes Browser:

rs147914724

Molecular consequence:

• NM_001308152.2:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308153.2:c.546C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014629.4:c.474C>T - synonymous variant - [Sequence Ontology: SO:0001819]