ClinVar

NM_018941.4(CLN8):c.399G>T (p.Leu133Phe)

Gene:

CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.3

Genomic location:

• Chr8: 1771453 (on Assembly GRCh38)
• Chr8: 1719619 (on Assembly GRCh37)

Preferred name:

NM_018941.4(CLN8):c.399G>T (p.Leu133Phe)

HGVS:

• NC_000008.11:g.1771453G>T
• NG_008656.2:g.20676G>T
• NM_018941.4:c.399G>TMANE SELECT
• NP_061764.2:p.Leu133Phe
• NP_061764.2:p.Leu133Phe
• LRG_691t1:c.399G>T
• LRG_691:g.20676G>T
• LRG_691p1:p.Leu133Phe
• NC_000008.10:g.1719619G>T
• NM_018941.3:c.399G>T

This HGVS expression did not pass validation

Protein change:

L133F

Links:

dbSNP: rs948684101

NCBI 1000 Genomes Browser:

rs948684101

Molecular consequence:

• NM_018941.4:c.399G>T - missense variant - [Sequence Ontology: SO:0001583]