ClinVar

NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.3

Genomic location:

• Chr6: 135429891 (on Assembly GRCh38)
• Chr6: 135751029 (on Assembly GRCh37)

Preferred name:

NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)

HGVS:

• NC_000006.12:g.135429891T>G
• NG_008643.2:g.72875A>C
• NM_001134830.2:c.2483A>C
• NM_001134831.2:c.2483A>CMANE SELECT
• NM_001134832.2:c.2483A>C
• NM_001350503.2:c.2483A>C
• NM_001350504.2:c.2483A>C
• NM_017651.5:c.2483A>C
• NP_001128302.1:p.Asp828Ala
• NP_001128303.1:p.Asp828Ala
• NP_001128304.1:p.Asp828Ala
• NP_001337432.1:p.Asp828Ala
• NP_001337433.1:p.Asp828Ala
• NP_060121.3:p.Asp828Ala
• NP_060121.3:p.Asp828Ala
• NC_000006.11:g.135751029T>G
• NC_000006.11:g.135751029T>G
• NM_017651.4:c.2483A>C

This HGVS expression did not pass validation

Protein change:

D828A

Links:

dbSNP: rs1784406093

NCBI 1000 Genomes Browser:

rs1784406093

Molecular consequence:

• NM_001134830.2:c.2483A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134831.2:c.2483A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134832.2:c.2483A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350503.2:c.2483A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350504.2:c.2483A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_017651.5:c.2483A>C - missense variant - [Sequence Ontology: SO:0001583]