ClinVar

NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)

Gene:

KLHL7:kelch like family member 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p15.3

Genomic location:

• Chr7: 23140784 (on Assembly GRCh38)
• Chr7: 23180403 (on Assembly GRCh37)

Preferred name:

NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)

HGVS:

• NC_000007.14:g.23140784C>T
• NG_016983.2:g.40051C>T
• NM_001031710.3:c.458C>TMANE SELECT
• NM_018846.5:c.314C>T
• NP_001026880.2:p.Ala153Val
• NP_001026880.2:p.Ala153Val
• NP_061334.4:p.Ala105Val
• NC_000007.13:g.23180403C>T
• NG_016983.1:g.40051C>T
• NM_001031710.2:c.458C>T
• NR_033328.2:n.831C>T
• Q8IXQ5:p.Ala153Val

This HGVS expression did not pass validation

Protein change:

A105V; ALA153VAL

Links:

UniProtKB: Q8IXQ5#VAR_060674; OMIM: 611119.0002; dbSNP: rs137853113

NCBI 1000 Genomes Browser:

rs137853113

Molecular consequence:

• NM_001031710.3:c.458C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018846.5:c.314C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_033328.2:n.831C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]