ClinVar

NM_022041.4(GAN):c.906C>T (p.Asn302=)

Gene:

GAN:gigaxonin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.2

Genomic location:

• Chr16: 81357864 (on Assembly GRCh38)
• Chr16: 81391469 (on Assembly GRCh37)

Preferred name:

NM_022041.4(GAN):c.906C>T (p.Asn302=)

HGVS:

• NC_000016.10:g.81357864C>T
• NG_009007.1:g.47899C>T
• NM_001377486.1:c.267C>T
• NM_022041.4:c.906C>TMANE SELECT
• NP_001364415.1:p.Asn89=
• NP_071324.1:p.Asn302=
• NP_071324.1:p.Asn302=
• LRG_242t1:c.906C>T
• LRG_242:g.47899C>T
• LRG_242p1:p.Asn302=
• NC_000016.9:g.81391469C>T
• NM_022041.3:c.906C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001377486.1:c.267C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022041.4:c.906C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1