ClinVar

NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 12649169 - 12649170 (on Assembly GRCh38)
• Chr19: 12759983 - 12759984 (on Assembly GRCh37)

Preferred name:

NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)

HGVS:

• NC_000019.10:g.12649175dup
• NG_008318.1:g.22608dup
• NM_000528.4:c.2402dupMANE SELECT
• NM_001173498.2:c.2399dup
• NP_000519.2:p.Ser802fs
• NP_001166969.1:p.Ser801fs
• NC_000019.9:g.12759983_12759984insC
• NC_000019.9:g.12759989dup
• NM_000528.3:c.2402dup
• NM_000528.4:c.2402dupGMANE SELECT

This HGVS expression did not pass validation

Protein change:

S801fs

Links:

dbSNP: rs797044680

NCBI 1000 Genomes Browser:

rs797044680

Molecular consequence:

• NM_000528.4:c.2402dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001173498.2:c.2399dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

2