ClinVar

NM_181458.4(PAX3):c.405C>T (p.Asp135=)

Gene:

PAX3:paired box 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.1

Genomic location:

• Chr2: 222295574 (on Assembly GRCh38)
• Chr2: 223160293 (on Assembly GRCh37)

Preferred name:

NM_181458.4(PAX3):c.405C>T (p.Asp135=)

HGVS:

• NC_000002.12:g.222295574G>A
• NG_011632.1:g.8408C>T
• NG_021186.1:g.2428G>A
• NM_000438.6:c.405C>T
• NM_001127366.3:c.402C>T
• NM_013942.5:c.405C>T
• NM_181457.4:c.405C>T
• NM_181458.4:c.405C>TMANE SELECT
• NM_181459.4:c.405C>T
• NM_181460.4:c.405C>T
• NM_181461.4:c.405C>T
• NP_000429.2:p.Asp135=
• NP_001120838.1:p.Asp134=
• NP_039230.1:p.Asp135=
• NP_852122.1:p.Asp135=
• NP_852123.1:p.Asp135=
• NP_852124.1:p.Asp135=
• NP_852125.1:p.Asp135=
• NP_852126.1:p.Asp135=
• NC_000002.11:g.223160293G>A
• NC_000002.11:g.223160293G>A
• NM_181457.3:c.405C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs778738002

NCBI 1000 Genomes Browser:

rs778738002

Molecular consequence:

• NM_000438.6:c.405C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127366.3:c.402C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013942.5:c.405C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181457.4:c.405C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181458.4:c.405C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181459.4:c.405C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181460.4:c.405C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181461.4:c.405C>T - synonymous variant - [Sequence Ontology: SO:0001819]