ClinVar

NM_001371533.1(FUT8):c.6G>T (p.Arg2=)

Gene:

FUT8:fucosyltransferase 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.3

Genomic location:

• Chr14: 65561569 (on Assembly GRCh38)
• Chr14: 66028287 (on Assembly GRCh37)

Preferred name:

NM_001371533.1(FUT8):c.6G>T (p.Arg2=)

HGVS:

• NC_000014.9:g.65561569G>T
• NM_001371533.1:c.6G>TMANE SELECT
• NM_001371534.1:c.6G>T
• NM_001371536.1:c.6G>T
• NM_004480.4:c.-286-54409G>T
• NM_178155.3:c.6G>T
• NM_178156.2:c.6G>T
• NP_001358462.1:p.Arg2=
• NP_001358463.1:p.Arg2=
• NP_001358465.1:p.Arg2=
• NP_835368.1:p.Arg2=
• NP_835369.1:p.Arg2=
• NC_000014.8:g.66028287G>T
• NR_038167.1:n.1733G>T
• NR_038170.2:n.816G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_004480.4:c.-286-54409G>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_038167.1:n.1733G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001371533.1:c.6G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371534.1:c.6G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371536.1:c.6G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_178155.3:c.6G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_178156.2:c.6G>T - synonymous variant - [Sequence Ontology: SO:0001819]