ClinVar

NM_004319.3(ASTN1):c.3825G>A (p.Thr1275=)

Gene:

ASTN1:astrotactin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.2

Genomic location:

• Chr1: 176864344 (on Assembly GRCh38)
• Chr1: 176833480 (on Assembly GRCh37)

Preferred name:

NM_004319.3(ASTN1):c.3825G>A (p.Thr1275=)

HGVS:

• NC_000001.11:g.176864344C>T
• NM_001286164.2:c.3647+4500G>A
• NM_001364856.2:c.3849G>A
• NM_004319.3:c.3825G>AMANE SELECT
• NP_001351785.1:p.Thr1283=
• NP_004310.1:p.Thr1275=
• NC_000001.10:g.176833480C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001286164.2:c.3647+4500G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364856.2:c.3849G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004319.3:c.3825G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2