ClinVar

NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.3

Genomic location:

• Chr6: 135433125 (on Assembly GRCh38)
• Chr6: 135754263 (on Assembly GRCh37)

Preferred name:

NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)

Other names:

NM_001134830.1(AHI1):c.2168G>A(p.Arg723Gln); NM_001134831.1(AHI1):c.2168G>A(p.Arg723Gln); NM_001134832.1(AHI1):c.2168G>A(p.Arg723Gln); NM_017651.4(AHI1):c.2168G>A(p.Arg723Gln); NM_001134831.2(AHI1):c.2168G>A

HGVS:

• NC_000006.12:g.135433125C>T
• NG_008643.2:g.69641G>A
• NM_001134830.2:c.2168G>A
• NM_001134831.2:c.2168G>AMANE SELECT
• NM_001134832.2:c.2168G>A
• NM_001350503.2:c.2168G>A
• NM_001350504.2:c.2168G>A
• NM_017651.5:c.2168G>A
• NP_001128302.1:p.Arg723Gln
• NP_001128303.1:p.Arg723Gln
• NP_001128304.1:p.Arg723Gln
• NP_001337432.1:p.Arg723Gln
• NP_001337433.1:p.Arg723Gln
• NP_060121.3:p.Arg723Gln
• NP_060121.3:p.Arg723Gln
• NC_000006.11:g.135754263C>T
• NM_001134831.1:c.2168G>A
• NM_017651.4:c.2168G>A
• Q8N157:p.Arg723Gln

This HGVS expression did not pass validation

Protein change:

R723Q; ARG723GLN

Links:

UniProtKB: Q8N157#VAR_037894; OMIM: 608894.0006; dbSNP: rs121434351

NCBI 1000 Genomes Browser:

rs121434351

Molecular consequence:

• NM_001134830.2:c.2168G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134831.2:c.2168G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134832.2:c.2168G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350503.2:c.2168G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350504.2:c.2168G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017651.5:c.2168G>A - missense variant - [Sequence Ontology: SO:0001583]