ClinVar

NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

• Chr8: 93758540 (on Assembly GRCh38)
• Chr8: 94770768 (on Assembly GRCh37)

Preferred name:

NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)

HGVS:

• NC_000008.11:g.93758540G>A
• NG_009190.1:g.8697G>A
• NM_001142301.1:c.-8G>A
• NM_153704.6:c.370G>AMANE SELECT
• NP_714915.3:p.Glu124Lys
• NP_714915.3:p.Glu124Lys
• LRG_688t1:c.370G>A
• LRG_688t2:c.-8G>A
• LRG_688:g.8697G>A
• LRG_688p1:p.Glu124Lys
• NC_000008.10:g.94770768G>A
• NM_153704.5:c.370G>A
• NR_024522.2:n.391G>A
• Q5HYA8:p.Glu124Lys

This HGVS expression did not pass validation

Protein change:

E124K

Links:

UniProtKB: Q5HYA8#VAR_076872; dbSNP: rs375824494

NCBI 1000 Genomes Browser:

rs375824494

Molecular consequence:

• NM_001142301.1:c.-8G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_153704.6:c.370G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_024522.2:n.391G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1