ClinVar

NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.3

Genomic location:

• Chr6: 135442703 (on Assembly GRCh38)
• Chr6: 135763841 (on Assembly GRCh37)

Preferred name:

NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)

HGVS:

• NC_000006.12:g.135442703G>A
• NG_008643.2:g.60063C>T
• NM_001134830.2:c.1791C>T
• NM_001134831.2:c.1791C>TMANE SELECT
• NM_001134832.2:c.1791C>T
• NM_001350503.2:c.1791C>T
• NM_001350504.2:c.1791C>T
• NM_017651.5:c.1791C>T
• NP_001128302.1:p.Ile597=
• NP_001128303.1:p.Ile597=
• NP_001128304.1:p.Ile597=
• NP_001337432.1:p.Ile597=
• NP_001337433.1:p.Ile597=
• NP_060121.3:p.Ile597=
• NP_060121.3:p.Ile597=
• NC_000006.11:g.135763841G>A
• NM_017651.4:c.1791C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs150425546

NCBI 1000 Genomes Browser:

rs150425546

Molecular consequence:

• NM_001134830.2:c.1791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134831.2:c.1791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134832.2:c.1791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350503.2:c.1791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001350504.2:c.1791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017651.5:c.1791C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1