ClinVar

NM_004484.4(GPC3):c.39G>T (p.Ala13=)

Gene:

GPC3:glypican 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.2

Genomic location:

• ChrX: 133985411 (on Assembly GRCh38)
• ChrX: 133119438 (on Assembly GRCh37)

Preferred name:

NM_004484.4(GPC3):c.39G>T (p.Ala13=)

HGVS:

• NC_000023.11:g.133985411C>A
• NG_009286.1:g.5229G>T
• NM_001164617.2:c.39G>T
• NM_001164618.2:c.39G>T
• NM_001164619.2:c.39G>T
• NM_004484.4:c.39G>TMANE SELECT
• NP_001158089.1:p.Ala13=
• NP_001158090.1:p.Ala13=
• NP_001158091.1:p.Ala13=
• NP_004475.1:p.Ala13=
• NP_004475.1:p.Ala13=
• LRG_505t1:c.39G>T
• LRG_505:g.5229G>T
• LRG_505p1:p.Ala13=
• NC_000023.10:g.133119438C>A
• NM_004484.3:c.39G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1057522079

NCBI 1000 Genomes Browser:

rs1057522079

Molecular consequence:

• NM_001164617.2:c.39G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164618.2:c.39G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164619.2:c.39G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004484.4:c.39G>T - synonymous variant - [Sequence Ontology: SO:0001819]