ClinVar

NM_004484.4(GPC3):c.1698C>T (p.Thr566=)

Gene:

GPC3:glypican 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.2

Genomic location:

• ChrX: 133536169 (on Assembly GRCh38)
• ChrX: 132670197 (on Assembly GRCh37)

Preferred name:

NM_004484.4(GPC3):c.1698C>T (p.Thr566=)

HGVS:

• NC_000023.11:g.133536169G>A
• NG_009286.1:g.454470C>T
• NM_001164617.2:c.1767C>T
• NM_001164618.2:c.1650C>T
• NM_001164619.2:c.1536C>T
• NM_004484.4:c.1698C>TMANE SELECT
• NP_001158089.1:p.Thr589=
• NP_001158090.1:p.Thr550=
• NP_001158091.1:p.Thr512=
• NP_004475.1:p.Thr566=
• LRG_505t1:c.1698C>T
• LRG_505:g.454470C>T
• NC_000023.10:g.132670197G>A
• NM_004484.3:c.1698C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201310379

NCBI 1000 Genomes Browser:

rs201310379

Molecular consequence:

• NM_001164617.2:c.1767C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164618.2:c.1650C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164619.2:c.1536C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004484.4:c.1698C>T - synonymous variant - [Sequence Ontology: SO:0001819]