ClinVar

NM_001195581.2(ARL14EPL):c.440C>T (p.Pro147Leu)

Gene:

ARL14EPL:ARF like GTPase 14 effector protein like [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.1

Genomic location:

• Chr5: 116058928 (on Assembly GRCh38)
• Chr5: 115394625 (on Assembly GRCh37)

Preferred name:

NM_001195581.2(ARL14EPL):c.440C>T (p.Pro147Leu)

HGVS:

• NC_000005.10:g.116058928C>T
• NM_001195581.2:c.440C>TMANE SELECT
• NM_001385024.1:c.242C>T
• NM_001393974.1:c.440C>T
• NP_001182510.1:p.Pro147Leu
• NP_001371953.1:p.Pro81Leu
• NP_001380903.1:p.Pro147Leu
• NC_000005.9:g.115394625C>T
• NM_001195581.1:c.440C>T

This HGVS expression did not pass validation

Protein change:

P147L

Molecular consequence:

• NM_001195581.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385024.1:c.242C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393974.1:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]