ClinVar

NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)

Gene:

PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 42968332 (on Assembly GRCh38)
• Chr6: 42936070 (on Assembly GRCh37)

Preferred name:

NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)

HGVS:

• NC_000006.12:g.42968332G>A
• NG_008370.1:g.15912C>T
• NM_000287.4:c.1646C>TMANE SELECT
• NM_001316313.2:c.1382C>T
• NP_000278.3:p.Ala549Val
• NP_001303242.1:p.Ala461Val
• NC_000006.11:g.42936070G>A
• NM_000287.3:c.1646C>T
• NR_133009.2:n.1677C>T

This HGVS expression did not pass validation

Protein change:

A461V

Links:

dbSNP: rs115960224

NCBI 1000 Genomes Browser:

rs115960224

Molecular consequence:

• NM_000287.4:c.1646C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001316313.2:c.1382C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_133009.2:n.1677C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]