ClinVar

NM_001199172.2(MGAT5B):c.496C>T (p.Pro166Ser)

Gene:

MGAT5B:alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.2

Genomic location:

• Chr17: 76903353 (on Assembly GRCh38)
• Chr17: 74899435 (on Assembly GRCh37)

Preferred name:

NM_001199172.2(MGAT5B):c.496C>T (p.Pro166Ser)

HGVS:

• NC_000017.11:g.76903353C>T
• NM_001199172.2:c.496C>TMANE SELECT
• NM_144677.3:c.496C>T
• NM_198955.1:c.529C>T
• NP_001186101.1:p.Pro166Ser
• NP_653278.2:p.Pro166Ser
• NP_945193.1:p.Pro177Ser
• NC_000017.10:g.74899435C>T

This HGVS expression did not pass validation

Protein change:

P166S

Molecular consequence:

• NM_001199172.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_144677.3:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198955.1:c.529C>T - missense variant - [Sequence Ontology: SO:0001583]