ClinVar

NM_001048174.2(MUTYH):c.1258C>A (p.His420Asn)

Gene:

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 45331316 (on Assembly GRCh38)
• Chr1: 45796988 (on Assembly GRCh37)

Preferred name:

NM_001048174.2(MUTYH):c.1258C>A (p.His420Asn)

HGVS:

• NC_000001.11:g.45331316G>T
• NG_008189.1:g.14155C>A
• NM_001048171.2:c.1258C>A
• NM_001048172.2:c.1261C>A
• NM_001048173.2:c.1258C>A
• NM_001048174.2:c.1258C>AMANE SELECT
• NM_001128425.2:c.1342C>A
• NM_001293190.2:c.1303C>A
• NM_001293191.2:c.1291C>A
• NM_001293192.2:c.982C>A
• NM_001293195.2:c.1258C>A
• NM_001293196.2:c.982C>A
• NM_001350650.2:c.913C>A
• NM_001350651.2:c.913C>A
• NM_012222.3:c.1333C>A
• NP_001041636.2:p.His420Asn
• NP_001041637.1:p.His421Asn
• NP_001041638.1:p.His420Asn
• NP_001041639.1:p.His420Asn
• NP_001121897.1:p.His448Asn
• NP_001280119.1:p.His435Asn
• NP_001280120.1:p.His431Asn
• NP_001280121.1:p.His328Asn
• NP_001280124.1:p.His420Asn
• NP_001280125.1:p.His328Asn
• NP_001337579.1:p.His305Asn
• NP_001337580.1:p.His305Asn
• NP_036354.1:p.His445Asn
• LRG_220:g.14155C>A
• NC_000001.10:g.45796988G>T
• NR_146882.2:n.1486C>A
• NR_146883.2:n.1335C>A

This HGVS expression did not pass validation

Protein change:

H305N

Links:

dbSNP: rs786202133

NCBI 1000 Genomes Browser:

rs786202133

Molecular consequence:

• NM_001048171.2:c.1258C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048172.2:c.1261C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048173.2:c.1258C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001048174.2:c.1258C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128425.2:c.1342C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293190.2:c.1303C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293191.2:c.1291C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293192.2:c.982C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293195.2:c.1258C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293196.2:c.982C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350650.2:c.913C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350651.2:c.913C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012222.3:c.1333C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146882.2:n.1486C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146883.2:n.1335C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1