ClinVar

NM_001164380.2(STAU2):c.226C>T (p.Pro76Ser)

Gene:

STAU2:staufen double-stranded RNA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.11

Genomic location:

• Chr8: 73688702 (on Assembly GRCh38)
• Chr8: 74600937 (on Assembly GRCh37)

Preferred name:

NM_001164380.2(STAU2):c.226C>T (p.Pro76Ser)

HGVS:

• NC_000008.11:g.73688702G>A
• NM_001164380.2:c.226C>TMANE SELECT
• NM_001164381.2:c.130C>T
• NM_001164382.2:c.-38-15460C>T
• NM_001164383.2:c.-107+58081C>T
• NM_001164384.2:c.130C>T
• NM_001164385.2:c.112C>T
• NM_014393.3:c.130C>T
• NP_001157852.1:p.Pro76Ser
• NP_001157853.1:p.Pro44Ser
• NP_001157856.1:p.Pro44Ser
• NP_001157857.1:p.Pro38Ser
• NP_055208.2:p.Pro44Ser
• NC_000008.10:g.74600937G>A
• NM_001164380.1:c.226C>T

This HGVS expression did not pass validation

Protein change:

P38S

Links:

dbSNP: rs2130525530

NCBI 1000 Genomes Browser:

rs2130525530

Molecular consequence:

• NM_001164382.2:c.-38-15460C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164383.2:c.-107+58081C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164380.2:c.226C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164381.2:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164384.2:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164385.2:c.112C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014393.3:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]