ClinVar

NM_001166347.2(SLC26A11):c.924C>T (p.Ala308=)

Gene:

SLC26A11:solute carrier family 26 member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 80237533 (on Assembly GRCh38)
• Chr17: 78211332 (on Assembly GRCh37)

Preferred name:

NM_001166347.2(SLC26A11):c.924C>T (p.Ala308=)

HGVS:

• NC_000017.11:g.80237533C>T
• NG_137951.1:g.794C>T
• NM_001166347.2:c.924C>TMANE SELECT
• NM_001166348.2:c.924C>T
• NM_001166349.2:c.924C>T
• NM_173626.4:c.924C>T
• NP_001159819.1:p.Ala308=
• NP_001159820.1:p.Ala308=
• NP_001159821.1:p.Ala308=
• NP_775897.3:p.Ala308=
• NC_000017.10:g.78211332C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001166347.2:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166348.2:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166349.2:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173626.4:c.924C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1