ClinVar

NM_014629.4(ARHGEF10):c.38-146T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.3

Genomic location:

• Chr8: 1857814 (on Assembly GRCh38)
• Chr8: 1805980 (on Assembly GRCh37)

Preferred name:

NM_014629.4(ARHGEF10):c.38-146T>C

HGVS:

• NC_000008.11:g.1857814T>C
• NG_008480.1:g.38832T>C
• NM_001308152.2:c.38-146T>C
• NM_001308153.2:c.110-146T>C
• NM_014629.4:c.38-146T>CMANE SELECT
• LRG_234:g.38832T>C
• NC_000008.10:g.1805980T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs17756499

NCBI 1000 Genomes Browser:

rs17756499

Molecular consequence:

• NM_001308152.2:c.38-146T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308153.2:c.110-146T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_014629.4:c.38-146T>C - intron variant - [Sequence Ontology: SO:0001627]