ClinVar

NM_000150.4(FUT6):c.518C>T (p.Pro173Leu)

Gene:

FUT6:fucosyltransferase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 5832050 (on Assembly GRCh38)
• Chr19: 5832061 (on Assembly GRCh37)

Preferred name:

NM_000150.4(FUT6):c.518C>T (p.Pro173Leu)

HGVS:

• NC_000019.10:g.5832050G>A
• NG_007505.1:g.12682C>T
• NM_000150.4:c.518C>TMANE SELECT
• NM_001040701.2:c.518C>T
• NM_001369502.1:c.518C>T
• NM_001369504.1:c.518C>T
• NM_001369505.1:c.518C>T
• NM_001381955.1:c.518C>T
• NM_001381956.1:c.518C>T
• NM_001381957.1:c.518C>T
• NM_001381958.1:c.518C>T
• NM_001381959.1:c.518C>T
• NP_000141.1:p.Pro173Leu
• NP_001035791.1:p.Pro173Leu
• NP_001356431.1:p.Pro173Leu
• NP_001356433.1:p.Pro173Leu
• NP_001356434.1:p.Pro173Leu
• NP_001368884.1:p.Pro173Leu
• NP_001368885.1:p.Pro173Leu
• NP_001368886.1:p.Pro173Leu
• NP_001368887.1:p.Pro173Leu
• NP_001368888.1:p.Pro173Leu
• NC_000019.9:g.5832061G>A
• NM_000150.2:c.518C>T

This HGVS expression did not pass validation

Protein change:

P173L

Molecular consequence:

• NM_000150.4:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040701.2:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369502.1:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369504.1:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369505.1:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381955.1:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381956.1:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381957.1:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381958.1:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381959.1:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]