ClinVar

NM_001321154.2(METTL8):c.1136G>A (p.Arg379Gln)

Genes:

LOC122847316:Sharpr-MPRA regulatory region 8774 [Gene]
METTL8:methyltransferase 8, tRNA N3-cytidine [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 171324260 (on Assembly GRCh38)
• Chr2: 172180770 (on Assembly GRCh37)

Preferred name:

NM_001321154.2(METTL8):c.1136G>A (p.Arg379Gln)

HGVS:

• NC_000002.12:g.171324260C>T
• NG_077051.1:g.382C>T
• NG_168109.1:g.6C>T
• NM_001321154.2:c.1136G>AMANE SELECT
• NM_001321155.2:c.1136G>A
• NM_001321156.2:c.1136G>A
• NM_001321157.2:c.1280G>A
• NM_001321158.2:c.1001G>A
• NM_001321159.2:c.986G>A
• NM_001321160.2:c.*153G>A
• NM_001321161.2:c.*153G>A
• NM_001321162.2:c.*153G>A
• NM_024770.5:c.1136G>A
• NP_001308083.1:p.Arg379Gln
• NP_001308084.1:p.Arg379Gln
• NP_001308085.1:p.Arg379Gln
• NP_001308086.1:p.Arg427Gln
• NP_001308087.1:p.Arg334Gln
• NP_001308088.1:p.Arg329Gln
• NP_079046.2:p.Arg379Gln
• NC_000002.11:g.172180770C>T
• NM_024770.3:c.1136G>A
• NR_135568.2:n.589G>A

This HGVS expression did not pass validation

Protein change:

R329Q

Molecular consequence:

• NM_001321160.2:c.*153G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001321161.2:c.*153G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001321162.2:c.*153G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001321154.2:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321155.2:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321156.2:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321157.2:c.1280G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321158.2:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321159.2:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024770.5:c.1136G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_135568.2:n.589G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]