ClinVar

NM_018941.4(CLN8):c.614T>C (p.Met205Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.3

Genomic location:

• Chr8: 1780320 (on Assembly GRCh38)
• Chr8: 1728486 (on Assembly GRCh37)

Preferred name:

NM_018941.4(CLN8):c.614T>C (p.Met205Thr)

HGVS:

• NC_000008.11:g.1780320T>C
• NG_008656.2:g.29543T>C
• NM_018941.4:c.614T>CMANE SELECT
• NP_061764.2:p.Met205Thr
• NP_061764.2:p.Met205Thr
• LRG_691t1:c.614T>C
• LRG_691:g.29543T>C
• LRG_691p1:p.Met205Thr
• NC_000008.10:g.1728486T>C
• NM_018941.3:c.614T>C

This HGVS expression did not pass validation

Protein change:

M205T

Links:

dbSNP: rs763967636

NCBI 1000 Genomes Browser:

rs763967636

Molecular consequence:

• NM_018941.4:c.614T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1