ClinVar

NM_018075.5(ANO10):c.1962C>T (p.Ser654=)

Gene:

ANO10:anoctamin 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.1

Genomic location:

• Chr3: 43366927 (on Assembly GRCh38)
• Chr3: 43408419 (on Assembly GRCh37)

Preferred name:

NM_018075.5(ANO10):c.1962C>T (p.Ser654=)

HGVS:

• NC_000003.12:g.43366927G>A
• NG_028216.2:g.329668C>T
• NM_001204831.3:c.*81C>T
• NM_001204832.3:c.1764C>T
• NM_001204833.3:c.1629C>T
• NM_001204834.3:c.1392C>T
• NM_001346463.2:c.1962C>T
• NM_001346464.2:c.2079C>T
• NM_001346465.2:c.1845C>T
• NM_001346466.2:c.1764C>T
• NM_001346467.2:c.2079C>T
• NM_001346468.2:c.1962C>T
• NM_001346469.2:c.1764C>T
• NM_018075.5:c.1962C>TMANE SELECT
• NP_001191761.1:p.Ser588=
• NP_001191762.1:p.Ser543=
• NP_001191763.1:p.Ser464=
• NP_001333392.1:p.Ser654=
• NP_001333393.1:p.Ser693=
• NP_001333394.1:p.Ser615=
• NP_001333395.1:p.Ser588=
• NP_001333396.1:p.Ser693=
• NP_001333397.1:p.Ser654=
• NP_001333398.1:p.Ser588=
• NP_060545.3:p.Ser654=
• NC_000003.11:g.43408419G>A
• NC_000003.11:g.43408419G>A
• NM_018075.3:c.1962C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs756170502

NCBI 1000 Genomes Browser:

rs756170502

Molecular consequence:

• NM_001204831.3:c.*81C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001204832.3:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204833.3:c.1629C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204834.3:c.1392C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346463.2:c.1962C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346464.2:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346465.2:c.1845C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346466.2:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346467.2:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346468.2:c.1962C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346469.2:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018075.5:c.1962C>T - synonymous variant - [Sequence Ontology: SO:0001819]