ClinVar

NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)

Gene:

FERRY3:FERRY endosomal RAB5 effector complex subunit 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.32

Genomic location:

• Chr12: 4500218 (on Assembly GRCh38)
• Chr12: 4609384 (on Assembly GRCh37)

Preferred name:

NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)

Other names:

C12ORF4, ARG454TER

HGVS:

• NC_000012.12:g.4500218G>A
• NG_051648.1:g.43291C>T
• NM_001304811.2:c.1360C>T
• NM_001346153.2:c.1231C>T
• NM_001346155.2:c.1231C>T
• NM_001346156.2:c.841C>T
• NM_001346157.2:c.712C>T
• NM_001352962.2:c.508C>T
• NM_020374.4:c.1360C>TMANE SELECT
• NP_001291740.1:p.Arg454Ter
• NP_001333082.1:p.Arg411Ter
• NP_001333084.1:p.Arg411Ter
• NP_001333085.1:p.Arg281Ter
• NP_001333086.1:p.Arg238Ter
• NP_001339891.1:p.Arg170Ter
• NP_065107.1:p.Arg454Ter
• NC_000012.11:g.4609384G>A
• NM_020374.2:c.1360C>T
• NM_020374.3:c.1360C>T
• NR_144379.2:n.1339C>T
• NR_144380.2:n.1012C>T
• NR_144382.2:n.809C>T

This HGVS expression did not pass validation

Protein change:

R170*; ARG454TER

Links:

OMIM: 616082.0003; dbSNP: rs749969789

NCBI 1000 Genomes Browser:

rs749969789

Molecular consequence:

• NR_144379.2:n.1339C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144380.2:n.1012C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144382.2:n.809C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001304811.2:c.1360C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001346153.2:c.1231C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001346155.2:c.1231C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001346156.2:c.841C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001346157.2:c.712C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001352962.2:c.508C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_020374.4:c.1360C>T - nonsense - [Sequence Ontology: SO:0001587]