ClinVar

NM_139321.3(ATRN):c.396C>T (p.Cys132=)

Gene:

ATRN:attractin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 3471503 (on Assembly GRCh38)
• Chr20: 3452150 (on Assembly GRCh37)

Preferred name:

NM_139321.3(ATRN):c.396C>T (p.Cys132=)

HGVS:

• NC_000020.11:g.3471503C>T
• NG_029406.1:g.5486C>T
• NM_001207047.3:c.62+369C>T
• NM_001323332.2:c.396C>T
• NM_139321.3:c.396C>TMANE SELECT
• NM_139322.4:c.396C>T
• NP_001310261.1:p.Cys132=
• NP_647537.1:p.Cys132=
• NP_647538.1:p.Cys132=
• NC_000020.10:g.3452150C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001207047.3:c.62+369C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001323332.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_139321.3:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_139322.4:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]