ClinVar

NM_015570.4(AUTS2):c.1469-30C>T

Gene:

AUTS2:activator of transcription and developmental regulator AUTS2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.22

Genomic location:

• Chr7: 70766084 (on Assembly GRCh38)
• Chr7: 70231070 (on Assembly GRCh37)

Preferred name:

NM_015570.4(AUTS2):c.1469-30C>T

HGVS:

• NC_000007.14:g.70766084C>T
• NG_034133.1:g.1172166C>T
• NM_001127231.3:c.1469-30C>T
• NM_015570.4:c.1469-30C>TMANE SELECT
• NC_000007.13:g.70231070C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2293509

NCBI 1000 Genomes Browser:

rs2293509

Molecular consequence:

• NM_001127231.3:c.1469-30C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_015570.4:c.1469-30C>T - intron variant - [Sequence Ontology: SO:0001627]