ClinVar

NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)

Gene:

MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 12665404 (on Assembly GRCh38)
• Chr19: 12776218 (on Assembly GRCh37)

Preferred name:

NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)

HGVS:

• NC_000019.10:g.12665404C>T
• NG_008318.1:g.6374G>A
• NG_015814.1:g.3601C>T
• NM_000528.4:c.384G>AMANE SELECT
• NM_001173498.2:c.384G>A
• NP_000519.2:p.Trp128Ter
• NP_001166969.1:p.Trp128Ter
• NC_000019.9:g.12776218C>T

This HGVS expression did not pass validation

Protein change:

W128*

Links:

dbSNP: rs1555709972

NCBI 1000 Genomes Browser:

rs1555709972

Molecular consequence:

• NM_000528.4:c.384G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001173498.2:c.384G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2