ClinVar

NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)

Gene:

TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

• Chr8: 93786255 (on Assembly GRCh38)
• Chr8: 94798483 (on Assembly GRCh37)

Preferred name:

NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)

HGVS:

• NC_000008.11:g.93786255C>T
• NG_009190.1:g.36412C>T
• NM_001142301.1:c.1078C>T
• NM_153704.6:c.1321C>TMANE SELECT
• NP_001135773.1:p.Arg360Cys
• NP_714915.3:p.Arg441Cys
• NP_714915.3:p.Arg441Cys
• LRG_688t1:c.1321C>T
• LRG_688t2:c.1078C>T
• LRG_688:g.36412C>T
• LRG_688p1:p.Arg441Cys
• LRG_688p2:p.Arg360Cys
• NC_000008.10:g.94798483C>T
• NM_153704.5:c.1321C>T
• NR_024522.2:n.1342C>T
• Q5HYA8:p.Arg441Cys

This HGVS expression did not pass validation

Protein change:

R360C

Links:

UniProtKB: Q5HYA8#VAR_063794; dbSNP: rs752362727

NCBI 1000 Genomes Browser:

rs752362727

Molecular consequence:

• NM_001142301.1:c.1078C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153704.6:c.1321C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_024522.2:n.1342C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]