ClinVar

NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser)

Gene:

ANO5:anoctamin 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p14.3

Genomic location:

• Chr11: 22250769 (on Assembly GRCh38)
• Chr11: 22272315 (on Assembly GRCh37)

Preferred name:

NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser)

HGVS:

• NC_000011.10:g.22250769G>A
• NG_015844.1:g.62594G>A
• NM_001142649.2:c.1039G>A
• NM_213599.3:c.1042G>AMANE SELECT
• NP_001136121.1:p.Gly347Ser
• NP_998764.1:p.Gly348Ser
• NP_998764.1:p.Gly348Ser
• LRG_868t1:c.1042G>A
• LRG_868:g.62594G>A
• LRG_868p1:p.Gly348Ser
• NC_000011.9:g.22272315G>A
• NM_213599.2:c.1042G>A

This HGVS expression did not pass validation

Protein change:

G347S

Links:

dbSNP: rs139344099

NCBI 1000 Genomes Browser:

rs139344099

Molecular consequence:

• NM_001142649.2:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_213599.3:c.1042G>A - missense variant - [Sequence Ontology: SO:0001583]