ClinVar

NM_153704.6(TMEM67):c.369C>T (p.Ala123=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

• Chr8: 93758539 (on Assembly GRCh38)
• Chr8: 94770767 (on Assembly GRCh37)

Preferred name:

NM_153704.6(TMEM67):c.369C>T (p.Ala123=)

HGVS:

• NC_000008.11:g.93758539C>T
• NG_009190.1:g.8696C>T
• NM_001142301.1:c.-9C>T
• NM_153704.6:c.369C>TMANE SELECT
• NP_714915.3:p.Ala123=
• NP_714915.3:p.Ala123=
• LRG_688t1:c.369C>T
• LRG_688t2:c.-9C>T
• LRG_688:g.8696C>T
• LRG_688p1:p.Ala123=
• NC_000008.10:g.94770767C>T
• NM_153704.5:c.369C>T
• NR_024522.2:n.390C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs115640152

NCBI 1000 Genomes Browser:

rs115640152

Molecular consequence:

• NM_001142301.1:c.-9C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_024522.2:n.390C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_153704.6:c.369C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

7