ClinVar

NM_016219.5(MAN1B1):c.65C>T (p.Pro22Leu)

Genes:

LOC130003078:ATAC-STARR-seq lymphoblastoid active region 29343 [Gene]
MAN1B1:mannosidase alpha class 1B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 137087064 (on Assembly GRCh38)
• Chr9: 139981516 (on Assembly GRCh37)

Preferred name:

NM_016219.5(MAN1B1):c.65C>T (p.Pro22Leu)

HGVS:

• NC_000009.12:g.137087064C>T
• NG_031978.1:g.5138C>T
• NM_007230.1:c.-44C>T
• NM_016219.5:c.65C>TMANE SELECT
• NP_057303.2:p.Pro22Leu
• NC_000009.11:g.139981516C>T
• NM_016219.3:c.65C>T
• NR_045720.2:n.80C>T
• NR_045721.2:n.80C>T

This HGVS expression did not pass validation

Protein change:

P22L

Molecular consequence:

• NM_016219.5:c.65C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_045720.2:n.80C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045721.2:n.80C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]