ClinVar

NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.3

Genomic location:

• Chr6: 135429886 (on Assembly GRCh38)
• Chr6: 135751024 (on Assembly GRCh37)

Preferred name:

NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)

HGVS:

• NC_000006.12:g.135429886G>A
• NG_008643.2:g.72880C>T
• NM_001134830.2:c.2488C>T
• NM_001134831.2:c.2488C>TMANE SELECT
• NM_001134832.2:c.2488C>T
• NM_001350503.2:c.2488C>T
• NM_001350504.2:c.2488C>T
• NM_017651.5:c.2488C>T
• NP_001128302.1:p.Arg830Trp
• NP_001128303.1:p.Arg830Trp
• NP_001128304.1:p.Arg830Trp
• NP_001337432.1:p.Arg830Trp
• NP_001337433.1:p.Arg830Trp
• NP_060121.3:p.Arg830Trp
• NP_060121.3:p.Arg830Trp
• NC_000006.11:g.135751024G>A
• NM_017651.4:c.2488C>T
• Q8N157:p.Arg830Trp

This HGVS expression did not pass validation

Protein change:

R830W

Links:

UniProtKB: Q8N157#VAR_037896; dbSNP: rs13312995

NCBI 1000 Genomes Browser:

rs13312995

Molecular consequence:

• NM_001134830.2:c.2488C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134831.2:c.2488C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134832.2:c.2488C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350503.2:c.2488C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350504.2:c.2488C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017651.5:c.2488C>T - missense variant - [Sequence Ontology: SO:0001583]