ClinVar

NM_002382.5(MAX):c.415G>A (p.Asp139Asn)

Gene:

MAX:MYC associated factor X [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.3

Genomic location:

• Chr14: 65076544 (on Assembly GRCh38)
• Chr14: 65543262 (on Assembly GRCh37)

Preferred name:

NM_002382.5(MAX):c.415G>A (p.Asp139Asn)

HGVS:

• NC_000014.9:g.65076544C>T
• NG_029830.1:g.30966G>A
• NM_001271069.2:c.144+17164G>A
• NM_001320415.2:c.226G>A
• NM_001407094.1:c.415G>A
• NM_001407095.1:c.388G>A
• NM_001407096.1:c.*188G>A
• NM_001407097.1:c.*204G>A
• NM_001407098.1:c.307G>A
• NM_001407099.1:c.*188G>A
• NM_001407100.1:c.*204G>A
• NM_001407101.1:c.*204G>A
• NM_001407102.1:c.*188G>A
• NM_001407103.1:c.*204G>A
• NM_001407104.1:c.*188G>A
• NM_001407105.1:c.226G>A
• NM_001407106.1:c.226G>A
• NM_001407107.1:c.226G>A
• NM_001407108.1:c.*188G>A
• NM_001407109.1:c.*204G>A
• NM_001407110.1:c.*204G>A
• NM_001407111.1:c.214G>A
• NM_001407112.1:c.214G>A
• NM_002382.5:c.415G>AMANE SELECT
• NM_145112.3:c.388G>A
• NM_145113.3:c.*204G>A
• NM_197957.4:c.171+17164G>A
• NP_001307344.1:p.Asp76Asn
• NP_001394023.1:p.Asp139Asn
• NP_001394024.1:p.Asp130Asn
• NP_001394027.1:p.Asp103Asn
• NP_001394034.1:p.Asp76Asn
• NP_001394035.1:p.Asp76Asn
• NP_001394036.1:p.Asp76Asn
• NP_001394040.1:p.Asp72Asn
• NP_001394041.1:p.Asp72Asn
• NP_002373.3:p.Asp139Asn
• NP_002373.3:p.Asp139Asn
• NP_660087.1:p.Asp130Asn
• LRG_530t1:c.415G>A
• LRG_530:g.30966G>A
• LRG_530p1:p.Asp139Asn
• NC_000014.8:g.65543262C>T
• NM_002382.3:c.415G>A
• NM_002382.4:c.415G>A
• NR_073137.1:n.539G>A
• NR_073137.2:n.539G>A
• NR_176275.1:n.658G>A
• NR_176278.1:n.388G>A
• NR_176279.1:n.592G>A
• NR_176280.1:n.557G>A
• NR_176281.1:n.739G>A
• NR_176282.1:n.462G>A

This HGVS expression did not pass validation

Protein change:

D103N

Links:

dbSNP: rs772397458

NCBI 1000 Genomes Browser:

rs772397458

Molecular consequence:

• NM_145113.3:c.*204G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001271069.2:c.144+17164G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_197957.4:c.171+17164G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320415.2:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407094.1:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407095.1:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407098.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407105.1:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407106.1:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407107.1:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407111.1:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407112.1:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002382.5:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145112.3:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]