ClinVar

NM_003506.4(FZD6):c.1750G>T (p.Glu584Ter)

Gene:

FZD6:frizzled class receptor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.3

Genomic location:

• Chr8: 103329863 (on Assembly GRCh38)
• Chr8: 104342091 (on Assembly GRCh37)

Preferred name:

NM_003506.4(FZD6):c.1750G>T (p.Glu584Ter)

HGVS:

• NC_000008.11:g.103329863G>T
• NG_028909.1:g.36431G>T
• NG_028909.2:g.33870G>T
• NM_001164615.2:c.1750G>T
• NM_001164616.2:c.1654G>T
• NM_001317796.2:c.835G>T
• NM_003506.4:c.1750G>TMANE SELECT
• NP_001158087.1:p.Glu584Ter
• NP_001158088.1:p.Glu552Ter
• NP_001304725.1:p.Glu279Ter
• NP_003497.2:p.Glu584Ter
• NC_000008.10:g.104342091G>T
• NM_003506.3:c.1750G>T
• NR_133921.2:n.1918G>T

This HGVS expression did not pass validation

Protein change:

E279*; GLU584TER

Links:

OMIM: 603409.0001; dbSNP: rs151339002

NCBI 1000 Genomes Browser:

rs151339002

Molecular consequence:

• NR_133921.2:n.1918G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001164615.2:c.1750G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001164616.2:c.1654G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001317796.2:c.835G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003506.4:c.1750G>T - nonsense - [Sequence Ontology: SO:0001587]