ClinVar

NM_004484.4(GPC3):c.573C>T (p.Ala191=)

Gene:

GPC3:glypican 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.2

Genomic location:

• ChrX: 133753941 (on Assembly GRCh38)
• ChrX: 132887968 (on Assembly GRCh37)

Preferred name:

NM_004484.4(GPC3):c.573C>T (p.Ala191=)

HGVS:

• NC_000023.11:g.133753941G>A
• NG_009286.1:g.236699C>T
• NM_001164617.2:c.573C>T
• NM_001164618.2:c.525C>T
• NM_001164619.2:c.411C>T
• NM_004484.4:c.573C>TMANE SELECT
• NP_001158089.1:p.Ala191=
• NP_001158090.1:p.Ala175=
• NP_001158091.1:p.Ala137=
• NP_004475.1:p.Ala191=
• LRG_505:g.236699C>T
• NC_000023.10:g.132887968G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2124480540

NCBI 1000 Genomes Browser:

rs2124480540

Molecular consequence:

• NM_001164617.2:c.573C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164618.2:c.525C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164619.2:c.411C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004484.4:c.573C>T - synonymous variant - [Sequence Ontology: SO:0001819]