ClinVar

NM_001174150.2(ARL13B):c.6C>T (p.Phe2=)

Gene:

ARL13B:ARF like GTPase 13B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q11.1

Genomic location:

• Chr3: 93980429 (on Assembly GRCh38)
• Chr3: 93699273 (on Assembly GRCh37)

Preferred name:

NM_001174150.2(ARL13B):c.6C>T (p.Phe2=)

HGVS:

• NC_000003.12:g.93980429C>T
• NG_017076.1:g.5291C>T
• NM_001174150.2:c.6C>TMANE SELECT
• NM_001174151.2:c.-233C>T
• NM_001321328.2:c.-162C>T
• NM_144996.4:c.6C>T
• NM_182896.3:c.6C>T
• NP_001167621.1:p.Phe2=
• NP_659433.2:p.Phe2=
• NP_878899.1:p.Phe2=
• NC_000003.11:g.93699273C>T
• NR_033427.2:n.275C>T
• NR_135621.2:n.275C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2107299111

NCBI 1000 Genomes Browser:

rs2107299111

Molecular consequence:

• NM_001174151.2:c.-233C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001321328.2:c.-162C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_033427.2:n.275C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_135621.2:n.275C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001174150.2:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_144996.4:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_182896.3:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]