ClinVar

NM_016734.3(PAX5):c.1026C>T (p.Ser342=)

Gene:

PAX5:paired box 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.2

Genomic location:

• Chr9: 36846916 (on Assembly GRCh38)
• Chr9: 36846913 (on Assembly GRCh37)

Preferred name:

NM_016734.3(PAX5):c.1026C>T (p.Ser342=)

HGVS:

• NC_000009.12:g.36846916G>A
• NG_033894.1:g.192564C>T
• NM_001280547.2:c.924C>T
• NM_001280548.2:c.1013-6280C>T
• NM_001280549.2:c.794C>T
• NM_001280550.2:c.781-6280C>T
• NM_001280551.2:c.587-6280C>T
• NM_001280552.2:c.911-6280C>T
• NM_001280553.2:c.884-6280C>T
• NM_001280554.2:c.897C>T
• NM_001280555.2:c.726C>T
• NM_001280556.2:c.702C>T
• NM_016734.3:c.1026C>TMANE SELECT
• NP_001267476.1:p.Ser308=
• NP_001267478.1:p.Pro265Leu
• NP_001267483.1:p.Ser299=
• NP_001267484.1:p.Ser242=
• NP_001267485.1:p.Ser234=
• NP_057953.1:p.Ser342=
• LRG_1384t1:c.1026C>T
• LRG_1384:g.192564C>T
• LRG_1384p1:p.Ser342=
• NC_000009.11:g.36846913G>A
• NM_016734.2:c.1026C>T
• NR_103999.2:n.1133C>T
• NR_104000.2:n.1190C>T

This HGVS expression did not pass validation

Protein change:

P265L

Links:

dbSNP: rs767690925

NCBI 1000 Genomes Browser:

rs767690925

Molecular consequence:

• NM_001280548.2:c.1013-6280C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001280550.2:c.781-6280C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001280551.2:c.587-6280C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001280552.2:c.911-6280C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001280553.2:c.884-6280C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001280549.2:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_103999.2:n.1133C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104000.2:n.1190C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001280547.2:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001280554.2:c.897C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001280555.2:c.726C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001280556.2:c.702C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016734.3:c.1026C>T - synonymous variant - [Sequence Ontology: SO:0001819]