ClinVar

NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

• Chr8: 93780659 (on Assembly GRCh38)
• Chr8: 94792887 (on Assembly GRCh37)

Preferred name:

NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)

HGVS:

• NC_000008.11:g.93780659G>A
• NG_009190.1:g.30816G>A
• NM_001142301.1:c.538G>A
• NM_153704.6:c.781G>AMANE SELECT
• NP_001135773.1:p.Asp180Asn
• NP_714915.3:p.Asp261Asn
• NP_714915.3:p.Asp261Asn
• LRG_688t1:c.781G>A
• LRG_688t2:c.538G>A
• LRG_688:g.30816G>A
• LRG_688p1:p.Asp261Asn
• LRG_688p2:p.Asp180Asn
• NC_000008.10:g.94792887G>A
• NM_153704.5:c.781G>A
• NR_024522.2:n.802G>A
• Q5HYA8:p.Asp261Asn

This HGVS expression did not pass validation

Protein change:

D180N

Links:

UniProtKB: Q5HYA8#VAR_062314; dbSNP: rs35793208

NCBI 1000 Genomes Browser:

rs35793208

Molecular consequence:

• NM_001142301.1:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153704.6:c.781G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_024522.2:n.802G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

43