ClinVar

NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.3

Genomic location:

• Chr6: 135300501 (on Assembly GRCh38)
• Chr6: 135621639 (on Assembly GRCh37)

Preferred name:

NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)

HGVS:

• NC_000006.12:g.135300501G>A
• NG_008643.2:g.202265C>T
• NM_001134830.2:c.3484C>T
• NM_001134831.2:c.3484C>TMANE SELECT
• NM_001350503.2:c.3484C>T
• NM_001350504.2:c.3484C>T
• NM_017651.5:c.3484C>T
• NP_001128302.1:p.His1162Tyr
• NP_001128303.1:p.His1162Tyr
• NP_001337432.1:p.His1162Tyr
• NP_001337433.1:p.His1162Tyr
• NP_060121.3:p.His1162Tyr
• NC_000006.11:g.135621639G>A

This HGVS expression did not pass validation

Protein change:

H1162Y

Molecular consequence:

• NM_001134830.2:c.3484C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001134831.2:c.3484C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350503.2:c.3484C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350504.2:c.3484C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017651.5:c.3484C>T - missense variant - [Sequence Ontology: SO:0001583]