ClinVar

NM_001134831.2(AHI1):c.1912+5G>T

Gene:

AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.3

Genomic location:

• Chr6: 135442577 (on Assembly GRCh38)
• Chr6: 135763715 (on Assembly GRCh37)

Preferred name:

NM_001134831.2(AHI1):c.1912+5G>T

HGVS:

• NC_000006.12:g.135442577C>A
• NG_008643.2:g.60189G>T
• NM_001134830.2:c.1912+5G>T
• NM_001134831.2:c.1912+5G>TMANE SELECT
• NM_001134832.2:c.1912+5G>T
• NM_001350503.2:c.1912+5G>T
• NM_001350504.2:c.1912+5G>T
• NM_017651.5:c.1912+5G>T
• NC_000006.11:g.135763715C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1554347012

NCBI 1000 Genomes Browser:

rs1554347012

Molecular consequence:

• NM_001134830.2:c.1912+5G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001134831.2:c.1912+5G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001134832.2:c.1912+5G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350503.2:c.1912+5G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350504.2:c.1912+5G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_017651.5:c.1912+5G>T - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]