ClinVar

NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.2

Genomic location:

• Chr5: 137637320 (on Assembly GRCh38)
• Chr5: 136973009 (on Assembly GRCh37)

Preferred name:

NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn)

HGVS:

• NC_000005.10:g.137637320C>T
• NG_032569.1:g.103771G>A
• NM_001257194.1:c.1199G>A
• NM_001257195.2:c.1049G>A
• NM_017415.3:c.1295G>AMANE SELECT
• NP_001244123.1:p.Ser400Asn
• NP_001244124.1:p.Ser350Asn
• NP_059111.2:p.Ser432Asn
• NC_000005.9:g.136973009C>T
• NP_059111.2:p.S432N
• Q9UH77:p.Ser432Asn

This HGVS expression did not pass validation

Protein change:

S350N

Links:

UniProtKB: Q9UH77#VAR_067520; dbSNP: rs199469631

NCBI 1000 Genomes Browser:

rs199469631

Molecular consequence:

• NM_001257194.1:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257195.2:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017415.3:c.1295G>A - missense variant - [Sequence Ontology: SO:0001583]