ClinVar

NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.3

Genomic location:

• Chr8: 1780485 (on Assembly GRCh38)
• Chr8: 1728651 (on Assembly GRCh37)

Preferred name:

NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)

Other names:

p.P260L:CCG>CTG; p.Pro260Leu

HGVS:

• NC_000008.11:g.1780485C>T
• NG_008656.2:g.29708C>T
• NM_018941.4:c.779C>TMANE SELECT
• NP_061764.2:p.Pro260Leu
• NP_061764.2:p.Pro260Leu
• LRG_691t1:c.779C>T
• LRG_691:g.29708C>T
• LRG_691p1:p.Pro260Leu
• NC_000008.10:g.1728651C>T
• NM_018941.3:c.779C>T

This HGVS expression did not pass validation

Protein change:

P260L

Links:

dbSNP: rs146579299

NCBI 1000 Genomes Browser:

rs146579299

Molecular consequence:

• NM_018941.4:c.779C>T - missense variant - [Sequence Ontology: SO:0001583]