ClinVar

NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)

Gene:

XYLT1:xylosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.3

Genomic location:

• Chr16: 17198347 (on Assembly GRCh38)
• Chr16: 17292204 (on Assembly GRCh37)

Preferred name:

NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)

HGVS:

• NC_000016.10:g.17198347G>A
• NG_015843.2:g.277535C>T
• NM_022166.4:c.1154C>TMANE SELECT
• NP_071449.1:p.Pro385Leu
• NC_000016.9:g.17292204G>A
• NC_000016.9:g.17292204G>A
• NG_015843.1:g.277535C>T
• NM_022166.3:c.1154C>T

This HGVS expression did not pass validation

Protein change:

P385L

Links:

dbSNP: rs36098987

NCBI 1000 Genomes Browser:

rs36098987

Molecular consequence:

• NM_022166.4:c.1154C>T - missense variant - [Sequence Ontology: SO:0001583]