ClinVar

NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)

Gene:

PANK2:pantothenate kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 3912573 (on Assembly GRCh38)
• Chr20: 3893220 (on Assembly GRCh37)

Preferred name:

NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)

Other names:

1021C>T; Arg341Ter

HGVS:

• NC_000020.11:g.3912573C>T
• NG_008131.3:g.28735C>T
• NM_001324191.2:c.478C>T
• NM_001324193.2:c.43C>T
• NM_001386393.1:c.1021C>TMANE SELECT
• NM_024960.6:c.478C>T
• NM_153638.4:c.1351C>T
• NM_153640.4:c.478C>T
• NP_001311120.1:p.Arg160Ter
• NP_001311122.1:p.Arg15Ter
• NP_001373322.1:p.Arg341Ter
• NP_079236.3:p.Arg160Ter
• NP_705902.2:p.Arg451Ter
• NP_705904.1:p.Arg160Ter
• LRG_1016t1:c.1351C>T
• LRG_1016t2:c.1021C>T
• LRG_1016:g.28735C>T
• LRG_1016p1:p.Arg451Ter
• LRG_1016p2:p.Arg341Ter
• NC_000020.10:g.3893220C>T
• NM_153638.2:c.1351C>T
• NR_136715.2:n.922C>T
• p.Arg451X

This HGVS expression did not pass validation

Protein change:

R15*

Links:

dbSNP: rs1250997630

NCBI 1000 Genomes Browser:

rs1250997630

Molecular consequence:

• NR_136715.2:n.922C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001324191.2:c.478C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001324193.2:c.43C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001386393.1:c.1021C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_024960.6:c.478C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_153638.4:c.1351C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_153640.4:c.478C>T - nonsense - [Sequence Ontology: SO:0001587]