ClinVar

NM_001077365.2(POMT1):c.1462G>A (p.Val488Met)

Gene:

POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 131518933 (on Assembly GRCh38)
• Chr9: 134394320 (on Assembly GRCh37)

Preferred name:

NM_001077365.2(POMT1):c.1462G>A (p.Val488Met)

HGVS:

• NC_000009.12:g.131518933G>A
• NG_008896.1:g.21032G>A
• NM_001077365.2:c.1462G>AMANE SELECT
• NM_001077366.2:c.1300G>A
• NM_001136113.2:c.1462G>A
• NM_001136114.2:c.1111G>A
• NM_001353193.2:c.1528G>A
• NM_001353194.2:c.1300G>A
• NM_001353195.2:c.1111G>A
• NM_001353196.2:c.1372G>A
• NM_001353197.2:c.1366G>A
• NM_001353198.2:c.1366G>A
• NM_001353199.2:c.1177G>A
• NM_001353200.2:c.1006G>A
• NM_001374689.1:c.1450G>A
• NM_001374690.1:c.1365+396G>A
• NM_001374691.1:c.1111G>A
• NM_001374692.1:c.1111G>A
• NM_001374693.1:c.1111G>A
• NM_001374695.1:c.1072G>A
• NM_007171.4:c.1528G>A
• NP_001070833.1:p.Val488Met
• NP_001070834.1:p.Val434Met
• NP_001129585.1:p.Val488Met
• NP_001129586.1:p.Val371Met
• NP_001340122.2:p.Val510Met
• NP_001340123.1:p.Val434Met
• NP_001340124.1:p.Val371Met
• NP_001340125.1:p.Val458Met
• NP_001340126.2:p.Val456Met
• NP_001340127.2:p.Val456Met
• NP_001340128.2:p.Val393Met
• NP_001340129.1:p.Val336Met
• NP_001361618.1:p.Val484Met
• NP_001361620.1:p.Val371Met
• NP_001361621.1:p.Val371Met
• NP_001361622.1:p.Val371Met
• NP_001361624.1:p.Val358Met
• NP_009102.4:p.Val510Met
• LRG_842t1:c.1528G>A
• LRG_842t2:c.1462G>A
• LRG_842p1:p.Val510Met
• LRG_842p2:p.Val488Met
• NC_000009.11:g.134394320G>A
• NR_148391.2:n.1496G>A
• NR_148392.2:n.1714G>A
• NR_148393.2:n.1635G>A
• NR_148394.2:n.1389G>A
• NR_148395.2:n.1787G>A
• NR_148396.2:n.1421G>A
• NR_148397.2:n.1546G>A
• NR_148398.2:n.1501G>A
• NR_148399.2:n.2027G>A
• NR_148400.2:n.1626G>A

This HGVS expression did not pass validation

Protein change:

V336M

Links:

dbSNP: rs748365119

NCBI 1000 Genomes Browser:

rs748365119

Molecular consequence:

• NM_001374690.1:c.1365+396G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077365.2:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077366.2:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136113.2:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001136114.2:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353193.2:c.1528G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353194.2:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353195.2:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353196.2:c.1372G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353197.2:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353198.2:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353199.2:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353200.2:c.1006G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374689.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374691.1:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374692.1:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374693.1:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374695.1:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007171.4:c.1528G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_148391.2:n.1496G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148392.2:n.1714G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148393.2:n.1635G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148394.2:n.1389G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148395.2:n.1787G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148396.2:n.1421G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148397.2:n.1546G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148398.2:n.1501G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148399.2:n.2027G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148400.2:n.1626G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1