ClinVar

NM_001386393.1(PANK2):c.1006G>A (p.Val336Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 3912558 (on Assembly GRCh38)
• Chr20: 3893205 (on Assembly GRCh37)

Preferred name:

NM_001386393.1(PANK2):c.1006G>A (p.Val336Met)

HGVS:

• NC_000020.11:g.3912558G>A
• NG_008131.3:g.28720G>A
• NM_001324191.2:c.463G>A
• NM_001324193.2:c.28G>A
• NM_001386393.1:c.1006G>AMANE SELECT
• NM_024960.6:c.463G>A
• NM_153638.4:c.1336G>A
• NM_153640.4:c.463G>A
• NP_001311120.1:p.Val155Met
• NP_001311122.1:p.Val10Met
• NP_001373322.1:p.Val336Met
• NP_079236.3:p.Val155Met
• NP_705902.2:p.Val446Met
• NP_705904.1:p.Val155Met
• LRG_1016t1:c.1336G>A
• LRG_1016t2:c.1006G>A
• LRG_1016:g.28720G>A
• LRG_1016p1:p.Val446Met
• LRG_1016p2:p.Val336Met
• NC_000020.10:g.3893205G>A
• NM_153638.2:c.1336G>A
• NR_136715.2:n.907G>A

This HGVS expression did not pass validation

Protein change:

V10M

Molecular consequence:

• NM_001324191.2:c.463G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324193.2:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386393.1:c.1006G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024960.6:c.463G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153638.4:c.1336G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153640.4:c.463G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136715.2:n.907G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]