ClinVar

NM_018941.4(CLN8):c.386G>A (p.Arg129Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.3

Genomic location:

• Chr8: 1771440 (on Assembly GRCh38)
• Chr8: 1719606 (on Assembly GRCh37)

Preferred name:

NM_018941.4(CLN8):c.386G>A (p.Arg129Gln)

HGVS:

• NC_000008.11:g.1771440G>A
• NG_008656.2:g.20663G>A
• NM_018941.4:c.386G>AMANE SELECT
• NP_061764.2:p.Arg129Gln
• NP_061764.2:p.Arg129Gln
• LRG_691t1:c.386G>A
• LRG_691:g.20663G>A
• LRG_691p1:p.Arg129Gln
• NC_000008.10:g.1719606G>A
• NM_018941.3:c.386G>A

This HGVS expression did not pass validation

Protein change:

R129Q

Links:

dbSNP: rs571617007

NCBI 1000 Genomes Browser:

rs571617007

Molecular consequence:

• NM_018941.4:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]