ClinVar

NM_000528.4(MAN2B1):c.1068C>A (p.Pro356=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 12658469 (on Assembly GRCh38)
• Chr19: 12769283 (on Assembly GRCh37)

Preferred name:

NM_000528.4(MAN2B1):c.1068C>A (p.Pro356=)

HGVS:

• NC_000019.10:g.12658469G>T
• NG_008318.1:g.13309C>A
• NM_000528.4:c.1068C>AMANE SELECT
• NM_001173498.2:c.1065C>A
• NP_000519.2:p.Pro356=
• NP_001166969.1:p.Pro355=
• NC_000019.9:g.12769283G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs117880912

NCBI 1000 Genomes Browser:

rs117880912

Molecular consequence:

• NM_000528.4:c.1068C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173498.2:c.1065C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1