ClinVar

NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 3912540 (on Assembly GRCh38)
• Chr20: 3893187 (on Assembly GRCh37)

Preferred name:

NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)

HGVS:

• NC_000020.11:g.3912540C>T
• NG_008131.3:g.28702C>T
• NM_001324191.2:c.445C>T
• NM_001324193.2:c.10C>T
• NM_001386393.1:c.988C>TMANE SELECT
• NM_024960.6:c.445C>T
• NM_153638.4:c.1318C>T
• NM_153640.4:c.445C>T
• NP_001311120.1:p.Arg149Cys
• NP_001311122.1:p.Arg4Cys
• NP_001373322.1:p.Arg330Cys
• NP_079236.3:p.Arg149Cys
• NP_705902.2:p.Arg440Cys
• NP_705904.1:p.Arg149Cys
• LRG_1016t1:c.1318C>T
• LRG_1016t2:c.988C>T
• LRG_1016:g.28702C>T
• LRG_1016p1:p.Arg440Cys
• LRG_1016p2:p.Arg330Cys
• NC_000020.10:g.3893187C>T
• NM_153638.2:c.1318C>T
• NR_136715.2:n.889C>T

This HGVS expression did not pass validation

Protein change:

R149C

Links:

dbSNP: rs201329683

NCBI 1000 Genomes Browser:

rs201329683

Molecular consequence:

• NM_001324191.2:c.445C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324193.2:c.10C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386393.1:c.988C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024960.6:c.445C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153638.4:c.1318C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153640.4:c.445C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136715.2:n.889C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]