ClinVar

NM_016219.5(MAN1B1):c.772C>T (p.Leu258=)

Gene:

MAN1B1:mannosidase alpha class 1B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137099737 (on Assembly GRCh38)
• Chr9: 139994189 (on Assembly GRCh37)

Preferred name:

NM_016219.5(MAN1B1):c.772C>T (p.Leu258=)

HGVS:

• NC_000009.12:g.137099737C>T
• NG_031978.1:g.17811C>T
• NM_007230.1:c.664C>T
• NM_016219.5:c.772C>TMANE SELECT
• NP_009161.1:p.Leu222=
• NP_057303.2:p.Leu258=
• NC_000009.11:g.139994189C>T
• NM_016219.4:c.772C>T
• NR_045720.2:n.787C>T
• NR_045721.2:n.918C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_045720.2:n.787C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045721.2:n.918C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_007230.1:c.664C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016219.5:c.772C>T - synonymous variant - [Sequence Ontology: SO:0001819]