ClinVar

NM_000278.5(PAX2):c.102C>T (p.Pro34=)

Gene:

PAX2:paired box 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

• Chr10: 100749804 (on Assembly GRCh38)
• Chr10: 102509561 (on Assembly GRCh37)

Preferred name:

NM_000278.5(PAX2):c.102C>T (p.Pro34=)

HGVS:

• NC_000010.11:g.100749804C>T
• NG_008680.2:g.19096C>T
• NM_000278.5:c.102C>TMANE SELECT
• NM_001304569.2:c.195C>T
• NM_003987.5:c.102C>T
• NM_003988.5:c.102C>T
• NM_003989.5:c.102C>T
• NM_003990.5:c.102C>T
• NP_000269.3:p.Pro34=
• NP_001291498.1:p.Pro65=
• NP_003978.3:p.Pro34=
• NP_003979.2:p.Pro34=
• NP_003980.3:p.Pro34=
• NP_003981.3:p.Pro34=
• NC_000010.10:g.102509561C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000278.5:c.102C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304569.2:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003987.5:c.102C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003988.5:c.102C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003989.5:c.102C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003990.5:c.102C>T - synonymous variant - [Sequence Ontology: SO:0001819]