ClinVar

NM_017415.3(KLHL3):c.1170G>T (p.Ala390=)

Gene:

KLHL3:kelch like family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.2

Genomic location:

• Chr5: 137639002 (on Assembly GRCh38)
• Chr5: 136974691 (on Assembly GRCh37)

Preferred name:

NM_017415.3(KLHL3):c.1170G>T (p.Ala390=)

HGVS:

• NC_000005.10:g.137639002C>A
• NG_032569.1:g.102089G>T
• NM_001257194.1:c.1074G>T
• NM_001257195.2:c.924G>T
• NM_017415.3:c.1170G>TMANE SELECT
• NP_001244123.1:p.Ala358=
• NP_001244124.1:p.Ala308=
• NP_059111.2:p.Ala390=
• NC_000005.9:g.136974691C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001257194.1:c.1074G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257195.2:c.924G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017415.3:c.1170G>T - synonymous variant - [Sequence Ontology: SO:0001819]