ClinVar

NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.2

Genomic location:

• Chr5: 137639012 (on Assembly GRCh38)
• Chr5: 136974701 (on Assembly GRCh37)

Preferred name:

NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro)

HGVS:

• NC_000005.10:g.137639012A>G
• NG_032569.1:g.102079T>C
• NM_001257194.1:c.1064T>C
• NM_001257195.2:c.914T>C
• NM_017415.3:c.1160T>CMANE SELECT
• NP_001244123.1:p.Leu355Pro
• NP_001244124.1:p.Leu305Pro
• NP_059111.2:p.Leu387Pro
• NC_000005.9:g.136974701A>G
• NP_059111.2:p.L387P
• Q9UH77:p.Leu387Pro

This HGVS expression did not pass validation

Protein change:

L305P

Links:

UniProtKB: Q9UH77#VAR_067514; dbSNP: rs199469630

NCBI 1000 Genomes Browser:

rs199469630

Molecular consequence:

• NM_001257194.1:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257195.2:c.914T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_017415.3:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]