ClinVar

NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn)

Gene:

HSPB8:heat shock protein family B (small) member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.23

Genomic location:

• Chr12: 119187080 (on Assembly GRCh38)
• Chr12: 119624885 (on Assembly GRCh37)

Preferred name:

NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn)

Other names:

HSPB8, 423G-T, LYS141ASN

HGVS:

• NC_000012.12:g.119187080G>T
• NG_007953.2:g.13291G>T
• NM_014365.2:c.423G>T
• NP_055180.1:p.Lys141Asn
• LRG_249t1:c.423G>T
• LRG_249:g.13291G>T
• LRG_249p1:p.Lys141Asn
• NC_000012.11:g.119624885G>T
• Q9UJY1:p.Lys141Asn

This HGVS expression did not pass validation

Protein change:

K141N; LYS141ASN

Links:

UniProtKB: Q9UJY1#VAR_018505; OMIM: 608014.0003; dbSNP: rs104894345

NCBI 1000 Genomes Browser:

rs104894345

Molecular consequence:

• NM_014365.2:c.423G>T - missense variant - [Sequence Ontology: SO:0001583]