ClinVar

NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)

Gene:

PEX16:peroxisomal biogenesis factor 16 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 45916248 (on Assembly GRCh38)
• Chr11: 45937799 (on Assembly GRCh37)

Preferred name:

NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)

HGVS:

• NC_000011.10:g.45916248C>A
• NG_008460.1:g.6876G>T
• NM_004813.4:c.204G>TMANE SELECT
• NM_057174.3:c.204G>T
• NP_004804.2:p.Glu68Asp
• NP_476515.2:p.Glu68Asp
• NC_000011.9:g.45937799C>A
• NM_004813.2:c.204G>T

This HGVS expression did not pass validation

Protein change:

E68D

Links:

dbSNP: rs149348130

NCBI 1000 Genomes Browser:

rs149348130

Molecular consequence:

• NM_004813.4:c.204G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_057174.3:c.204G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3