ClinVar

NM_001174150.2(ARL13B):c.379G>T (p.Val127Leu)

Gene:

ARL13B:ADP ribosylation factor like GTPase 13B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q11.2

Genomic location:

• Chr3: 94003907 (on Assembly GRCh38)
• Chr3: 93722751 (on Assembly GRCh37)

Preferred name:

NM_001174150.2(ARL13B):c.379G>T (p.Val127Leu)

HGVS:

• NC_000003.12:g.94003907G>T
• NG_017076.1:g.28769G>T
• NM_001174150.2:c.379G>TMANE SELECT
• NM_001174151.2:c.70G>T
• NM_001321328.2:c.334G>T
• NM_144996.4:c.59+23425G>T
• NM_182896.3:c.379G>T
• NP_001167621.1:p.Val127Leu
• NP_001167622.1:p.Val24Leu
• NP_001308257.1:p.Val112Leu
• NP_878899.1:p.Val127Leu
• NC_000003.11:g.93722751G>T
• NM_001174150.1:c.379G>T

This HGVS expression did not pass validation

Protein change:

V112L

Links:

dbSNP: rs771933896

NCBI 1000 Genomes Browser:

rs771933896

Molecular consequence:

• NM_144996.4:c.59+23425G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001174150.2:c.379G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174151.2:c.70G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321328.2:c.334G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_182896.3:c.379G>T - missense variant - [Sequence Ontology: SO:0001583]